NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs) AND Agenesis of the corpus callosum with peripheral neuropathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 8, 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:: RCV002309623.2

Allele description [Variation Report for NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)]

NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)

Gene:

SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)

HGVS:

NC_000015.10:g.34236738dup
NG_007951.1:g.106327dup
NM_001042494.2:c.2835dup
NM_001042495.2:c.2835dup
NM_001042496.2:c.2985dup
NM_001042497.2:c.2967dup
NM_001365088.1:c.3012dupMANE SELECT
NM_005135.2:c.2859dup
NM_133647.2:c.3012dup
NP_001035959.1:p.Arg946fs
NP_001035960.1:p.Arg946fs
NP_001035961.1:p.Arg996fs
NP_001035962.1:p.Arg990fs
NP_001352017.1:p.Arg1005fs
NP_005126.1:p.Arg954fs
NP_598408.1:p.Arg1005Alafs
NP_598408.1:p.Arg1005fs
LRG_270t1:c.2859dup
LRG_270t2:c.3012dup
LRG_270:g.106327dup
LRG_270p1:p.Arg954fs
LRG_270p2:p.Arg1005Alafs
NC_000015.9:g.34528939dup
NM_133647.1:c.3012dup

Protein change:

R1005fs

Molecular consequence:

NM_001042494.2:c.2835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042495.2:c.2835dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042496.2:c.2985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042497.2:c.2967dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365088.1:c.3012dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005135.2:c.2859dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133647.2:c.3012dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002603500	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 8, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603500

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 8, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603500.2

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

Description

NM_133647.1(SLC12A6):c.3012dupG(R1005Afs*29) 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.

#	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

Last Updated: Oct 26, 2024

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