NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 5, 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:: RCV000623531.4

Allele description [Variation Report for NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)]

NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)

Gene:

SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)

HGVS:

NC_000003.12:g.38698389C>T
NG_031891.2:g.100622G>A
NM_001293306.2:c.4828G>A
NM_001293307.2:c.4537G>A
NM_006514.4:c.4831G>AMANE SELECT
NP_001280235.2:p.Gly1610Arg
NP_001280236.2:p.Gly1513Arg
NP_006505.3:p.Gly1611Arg
NP_006505.4:p.Gly1611Arg
NC_000003.11:g.38739880C>T
NM_006514.2:c.4831G>A
NM_006514.3:c.4831G>A
NM_006514.4:c.4831G>A

Protein change:

G1513R

Links:

dbSNP: rs777980971

NCBI 1000 Genomes Browser:

rs777980971

Molecular consequence:

NM_001293306.2:c.4828G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293307.2:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006514.4:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Human type II cAMP-dependent protein kinase (Ht31) mRNA, complete cds
Human type II cAMP-dependent protein kinase (Ht31) mRNA, complete cds
gi|184434|gb|M90360.1|HUMHT31A

Nucleotide
QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 [Macaca mulatta]
QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 [Macaca mulatta]
Gene ID:710310

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000740407	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 24, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005040379	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740407

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 24, 2017)

germline

clinical testing

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

SCV005040379

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 5, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	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 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV000740407.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040379.2

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

Description

Variant summary: SCN10A c.4831G>A (p.Gly1611Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251252 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4831G>A in individuals affected with SCN10A-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 520456). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Aug 11, 2024

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