ClinVar Miner

Submissions for variant NM_052918.5(SORCS1):c.3371+167C>T

dbSNP: rs1844748933
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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 RCV002254415 SCV002525561 likely pathogenic Alzheimer disease 6 2022-05-12 criteria provided, single submitter clinical testing The c.3421C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not previously reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies.

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