ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)

dbSNP: rs776438003
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Total submissions: 3
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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 RCV001799578 SCV002043747 uncertain significance Pontocerebellar hypoplasia type 2D 2021-07-02 criteria provided, single submitter clinical testing The c.467G>A variant is not present in publicly available population databases like 1000 Genomes and Exome Variant Server (EVS). The heterozygous state of the variant is present in Exome Aggregation Consortium (ExAC), 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) and/or OMIM databases, however it was identified and reported earlier in patients affected with milder progressive cerebellar atrophy [PMID:12920088]. In-silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not proved by any established functional evidence. Due to lack of enough evidence the variant has been calssified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV001799578 SCV002782067 uncertain significance Pontocerebellar hypoplasia type 2D 2022-03-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001799578 SCV003819331 uncertain significance Pontocerebellar hypoplasia type 2D 2023-11-16 criteria provided, single submitter clinical testing

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