ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)

dbSNP: rs1660628086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776432 SCV002012990 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Cultured myotubules from an affected individual demonstrated reduced KCL-induced Ca2+ release, suggesting a defect in excitation-contraction coupling; however studies were not completed in a heterologous expression system (Schartner et al., 2017); This variant is associated with the following publications: (PMID: 28012042)
OMIM RCV003222344 SCV003841108 pathogenic Congenital myopathy 18 2024-07-16 no assertion criteria provided literature only

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