ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)

dbSNP: rs1555755878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520747 SCV000619912 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing The c.2961_2962dupCC variant in the CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Arginine 988, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 83 of the new reading frame, denoted p.Arg988ProfsX83. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Adequate data is not available in large population cohorts to assess the frequency of the c.2961_2962dupCC variant in publicly available databases; however, this variant has not been detected in presumably healthy individuals tested at GeneDx. We interpret c.2961_2962dupCC as a pathogenic variant.
Baylor Genetics RCV001336210 SCV001529546 likely pathogenic Spinocerebellar ataxia type 6 2018-08-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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