ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1845C>A (p.Ser615Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004726249 SCV005340069 likely pathogenic CACNA1A-related disorder 2024-08-06 no assertion criteria provided clinical testing The CACNA1A c.1845C>A variant is predicted to result in the amino acid substitution p.Ser615Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has been reported de novo in a patient with clinical features consistent with CACNA1A-related disease (Internal Data, PreventionGenetics). An alternate nucleotide change that results in the same missense change (c.1843A>C; p.Ser615Arg) has been reported in individual(s) with CACNA1A-related disease (Lipman et al. 2022. PubMed ID: 35722745). A different missense change impacting the same amino acid (c.1844G>A; p.Ser615Asn) has been reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/808478/). This variant is interpreted as likely pathogenic.

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