ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)

dbSNP: rs72703607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002206 SCV001160080 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2018-11-13 criteria provided, single submitter clinical testing The CASQ2 c.926A>T; p.Asp309Val variant (rs72703607), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on only two chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The aspartate at codon 309 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Asp309Val variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002505531 SCV002815978 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001002206 SCV004050793 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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