ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)

dbSNP: rs2099444326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249681 SCV001423635 likely pathogenic Timothy syndrome; Brugada syndrome 3 2018-03-13 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM1, PM2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].

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