ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.860C>T (p.Thr287Met)

gnomAD frequency: 0.00014  dbSNP: rs200872262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541304 SCV001759281 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV001541304 SCV003470069 benign not provided 2022-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039250 SCV004915107 likely benign Inborn genetic diseases 2023-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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