ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331635 SCV004038561 uncertain significance not specified 2023-08-02 criteria provided, single submitter clinical testing Variant summary: CACNA1G c.1796C>T (p.Pro599Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.6e-05 in 239194 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1796C>T in individuals affected with Spinocerebellar Ataxia Type 42 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777385 SCV004673605 benign not provided 2023-03-14 criteria provided, single submitter clinical testing

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