ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter)

dbSNP: rs1556291640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598828 SCV000710683 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing The R1910X variant in the CACNA1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1910X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1910X as a variant of uncertain significance.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003139901 SCV003807883 uncertain significance Timothy syndrome 2022-06-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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