ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)

dbSNP: rs763794604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001775946 SCV002013001 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in a male who presented with rhabdomyolysis; however further information such as functional studies or family segregation data was not specified in this report (Vivante et al., 2017); This variant is associated with the following publications: (PMID: 28779239)
Yale Center for Mendelian Genomics, Yale University RCV000662288 SCV000784616 likely pathogenic Rhabdomyolysis 2017-08-05 no assertion criteria provided literature only

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