NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) AND Congenital stationary night blindness 1D

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 26, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002488199.3

Allele description [Variation Report for NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)]

NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)

Gene:

SLC24A1:solute carrier family 24 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)

HGVS:

NC_000015.10:g.65639613C>T
NG_031968.2:g.33209C>T
NM_001301031.1:c.1963C>T
NM_001301032.1:c.1909C>T
NM_001301033.2:c.1909C>T
NM_004727.3:c.1963C>TMANE SELECT
NP_001287960.1:p.Arg655Ter
NP_001287961.1:p.Arg637Ter
NP_001287962.1:p.Arg637Ter
NP_004718.1:p.Arg655Ter
NC_000015.9:g.65931951C>T
NM_004727.2:c.1963C>T

Protein change:

R637*

Links:

dbSNP: rs201452975

NCBI 1000 Genomes Browser:

rs201452975

Molecular consequence:

NM_001301031.1:c.1963C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001301032.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001301033.2:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004727.3:c.1963C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Congenital stationary night blindness 1D
Synonyms:: Night blindness, congenital stationary (complete), 1D, autosomal recessive
Identifiers:: MONDO: MONDO:0013450; MedGen: C3151193; Orphanet: 215; OMIM: 613830

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002775364	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 18, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004807030	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 26, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002775364

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 18, 2022)

unknown

clinical testing

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

SCV004807030

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 26, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002775364.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807030.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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