ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) (rs41312407)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087095 SCV000637127 benign Brugada syndrome 2020-10-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589314 SCV000700030 benign not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The SCN5A c.3246G>A (p.Val1082Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this substitution along with 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 41/109772 control chromosomes (1 homozygote), predominantly observed in the Latino subpopulation at a frequency of 0.0037091 (41/11054). This frequency is about 22 times the estimated maximal expected allele frequency of a pathogenic SCN5A variant (0.0001667), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Based on the high prevalence of the variant in the general population, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000611283 SCV000710930 benign not specified 2017-01-20 criteria provided, single submitter clinical testing p.Val1082Val in exon 18 of SCN5A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (41/11054) of Latino chromosomes, including 1 homozygote by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs41312407).
GeneDx RCV000611283 SCV000723776 likely benign not specified 2017-10-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV001190872 SCV001358501 benign Arrhythmia 2018-12-16 criteria provided, single submitter clinical testing

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