ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg)

gnomAD frequency: 0.00001  dbSNP: rs1188689970
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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 RCV001799549 SCV002043758 uncertain significance Spinocerebellar ataxia 44 2021-10-14 criteria provided, single submitter clinical testing The c.3405C>G variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS) and Exome Aggregation Consortium (ExAC). The heterozygous state of the variant is present in Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database (HGMD) or OMIM databases in any affected individuals. Predictions from different in-silico pathogenicity prediction programs like SIFT, Polyphen-2, MutationTaster2, CADD etc. are contradictory but these predictions have not been confirmed by published functional studies. Due to lack of enough evidence the variant has been classified as uncertain significance.

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