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NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter) AND Agenesis of the corpus callosum with peripheral neuropathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 25, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002306670.2

Allele description [Variation Report for NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)]

NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)

Gene:
SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)
HGVS:
  • NC_000015.10:g.34252352G>T
  • NG_007951.1:g.90713C>A
  • NM_001042494.2:c.974C>A
  • NM_001042495.2:c.974C>A
  • NM_001042496.2:c.1124C>A
  • NM_001042497.2:c.1106C>A
  • NM_001365088.1:c.1151C>AMANE SELECT
  • NM_005135.2:c.998C>A
  • NM_133647.2:c.1151C>A
  • NP_001035959.1:p.Ser325Ter
  • NP_001035960.1:p.Ser325Ter
  • NP_001035961.1:p.Ser375Ter
  • NP_001035962.1:p.Ser369Ter
  • NP_001352017.1:p.Ser384Ter
  • NP_005126.1:p.Ser333Ter
  • NP_598408.1:p.Ser384Ter
  • NP_598408.1:p.Ser384Ter
  • LRG_270t1:c.998C>A
  • LRG_270t2:c.1151C>A
  • LRG_270:g.90713C>A
  • LRG_270p1:p.Ser333Ter
  • LRG_270p2:p.Ser384Ter
  • NC_000015.9:g.34544553G>T
  • NM_133647.1:c.1151C>A
Protein change:
S325*
Molecular consequence:
  • NM_001042494.2:c.974C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042495.2:c.974C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042496.2:c.1124C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042497.2:c.1106C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001365088.1:c.1151C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005135.2:c.998C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133647.2:c.1151C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
Synonyms:
Andermann syndrome; Charlevoix disease; Corpus callosum agenesis neuronopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0000902; MedGen: C0795950; Orphanet: 1496; OMIM: 218000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602699Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Jan 25, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002602699.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_133647.1(SLC12A6):c.1151C>A(S384*) is expected to be pathogenic in the context of Andermann syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC12A6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Oct 26, 2024