ClinVar Miner

Submissions for variant NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val) (rs121434500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414434 SCV000490823 likely pathogenic not provided 2016-03-14 criteria provided, single submitter clinical testing The A390V likely pathogenic variant in the SNTA1 gene has been reported in a patient with recurrentsyncope and prolonged QT interval and was absent in 300 control individuals (Ueda et al., 2008). Uedaet al. (2008) performed functional studies in heterologous mouse cardiomyocytes, demonstrating theA390V variant in SNTA1 disrupted association with PMCA4b, increased SCN5A nitrosylation, andincreased late sodium current; findings characteristic of dysfunctional sodium-channel-mediated LQTS(LQT3). Furthermore, A390V results in a conservative amino acid substitution of Valine at a positionthat is conserved in mammals. Finally, the A390V likely pathogenic variant was not observed withany significant frequency in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. Therefore, this variant is likely pathogenic.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852541 SCV000995239 likely pathogenic Atrial fibrillation; Long QT syndrome 2019-04-17 criteria provided, single submitter clinical testing
OMIM RCV000008997 SCV000029211 pathogenic Long QT syndrome 12 2008-07-08 no assertion criteria provided literature only

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