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NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp) AND Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 8, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003889365.2

Allele description [Variation Report for NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)]

NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)

Gene:
SLC4A10:solute carrier family 4 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)
Other names:
R622W
HGVS:
  • NC_000002.12:g.161905754C>T
  • NG_021401.1:g.286420C>T
  • NM_001178015.2:c.1864C>TMANE SELECT
  • NM_001178016.2:c.1807C>T
  • NM_001354440.2:c.1864C>T
  • NM_001354441.2:c.1897C>T
  • NM_001354442.2:c.1897C>T
  • NM_001354443.2:c.1810C>T
  • NM_001354444.2:c.1861C>T
  • NM_001354445.2:c.1807C>T
  • NM_001354446.2:c.1774C>T
  • NM_001354447.2:c.1810C>T
  • NM_001354448.2:c.1804C>T
  • NM_001354449.2:c.1771C>T
  • NM_001354450.2:c.1774C>T
  • NM_001354451.2:c.1771C>T
  • NM_001354453.2:c.1627C>T
  • NM_001354455.2:c.1195C>T
  • NM_001354460.2:c.1900C>T
  • NM_001354461.2:c.1900C>T
  • NM_022058.4:c.1774C>T
  • NP_001171486.1:p.Arg622Trp
  • NP_001171487.1:p.Arg603Trp
  • NP_001341369.1:p.Arg622Trp
  • NP_001341370.1:p.Arg633Trp
  • NP_001341371.1:p.Arg633Trp
  • NP_001341372.1:p.Arg604Trp
  • NP_001341373.1:p.Arg621Trp
  • NP_001341374.1:p.Arg603Trp
  • NP_001341375.1:p.Arg592Trp
  • NP_001341376.1:p.Arg604Trp
  • NP_001341377.1:p.Arg602Trp
  • NP_001341378.1:p.Arg591Trp
  • NP_001341379.1:p.Arg592Trp
  • NP_001341380.1:p.Arg591Trp
  • NP_001341382.1:p.Arg543Trp
  • NP_001341384.1:p.Arg399Trp
  • NP_001341389.1:p.Arg634Trp
  • NP_001341390.1:p.Arg634Trp
  • NP_071341.2:p.Arg592Trp
  • NC_000002.11:g.162762264C>T
Note:
OMIM allelic variant 605556.0008 was initially processed as NM_001178016.1:c.1864C>T (reported in the text of the allelic variant) instead of NM_001178015.2:c.1864C>T as reported in Figure 1 of the paper by Maroofian et al., 2024 (PubMed 38054405).
Protein change:
R399W; ARG622TRP
Links:
OMIM: 605556.0008
Molecular consequence:
  • NM_001178015.2:c.1864C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178016.2:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354440.2:c.1864C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354441.2:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354442.2:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354443.2:c.1810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354444.2:c.1861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354445.2:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354446.2:c.1774C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354447.2:c.1810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354448.2:c.1804C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354449.2:c.1771C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354450.2:c.1774C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354451.2:c.1771C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354453.2:c.1627C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354455.2:c.1195C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354460.2:c.1900C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354461.2:c.1900C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022058.4:c.1774C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA)
Identifiers:
MONDO: MONDO:0958278; MedGen: C5935589; OMIM: 620746

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004704611OMIM
no assertion criteria provided
Pathogenic
(Mar 8, 2024) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, et al.

Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3.

PubMed [citation]
PMID:
38054405
PMCID:
PMC11157690

Details of each submission

From OMIM, SCV004704611.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.1864C-T transition (c.1864C-T, NM_001178016.1) in the SLC4A10 gene, resulting in an arg622-to-trp (R622W) substitution, that was identified in compound heterozygous state in a patient (family 2) with hypotonia and characteristic brain abnormalities (NEDHBA; 620746) by Maroofian et al. (2024), see 605556.0007.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024