ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe)

dbSNP: rs1555767914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000499887 SCV000598125 likely pathogenic Migraine, familial hemiplegic, 1 2017-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000522915 SCV000620048 pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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