ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro)

dbSNP: rs1312607495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839145 SCV002099071 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-05-18 criteria provided, single submitter clinical testing The inherited heterozygous c.5906T>C, p.Leu1969Pro variant in CACNA1G has not been reported in the literature. This variant is absent in the gnomAD v3.1 database, indicating a rare allele, and in silico tools predict a conflicting evidence of pathogenicity. Based on the available evidence, the inherited c.5906T>C, p.Leu1969Pro variant in the CACNA1G gene is classified as a variant of uncertain significance.

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