ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3266C>T (p.Pro1089Leu) (rs1805125)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242258 SCV000318823 benign Cardiovascular phenotype 2015-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,No disease association in appropriately sized case-control study(ies)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000041614 SCV000050839 benign not specified 2013-06-24 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058559 SCV000090079 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:10807545;PMID:15689442;PMID:16155735;PMID:18426444;PMID:19841300;PMID:20129283).
Color RCV000771148 SCV000902961 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000041614 SCV000171566 benign not specified 2011-11-30 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.
Invitae RCV000232987 SCV000291798 benign Brugada syndrome 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041614 SCV000065310 likely benign not specified 2012-11-05 criteria provided, single submitter clinical testing Pro1090Leu in exon 18 of SCN5A: This variant is not expected to have clinical si gnificance because it has been identified in 2.1% (12/572) of chromosomes from a broad, though clinically and racially unspecified population from 1000 Genomes Project (; rs1805125). Pro1090Leu in exon 18 of SCN5A (r s1805125; allele frequency = 2.1%, 12/572)

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