ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)

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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 RCV002465089 SCV002759485 uncertain significance Spinocerebellar ataxia type 6 2022-06-22 criteria provided, single submitter clinical testing The c.7105C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS) and Indian Exome Database. The heterozygous state of the variant is present in Genome Aggregation Database (gnomAD), at a low frequency. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies.

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