ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003445296 SCV004171814 uncertain significance Spinocerebellar ataxia type 42 2023-11-26 criteria provided, single submitter clinical testing The c.2614C>A variant is not present in publicly available population databases like 1000 Genomes, ExAC, gnomAD, EVS, Indian Exome Database and our in-house exome database. This variant has neither been previously observed in affected individuals nor published in literature. The variant has not been reported to clinical databases like ClinVar, HGMD or OMIM. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be deleterious, however these were not confirmed by any functional studies.

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