ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.287del (p.Gly96fs)

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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 RCV002465052 SCV002759445 likely pathogenic Geroderma osteodysplastica 2022-08-18 criteria provided, single submitter clinical testing The c.287del variant is not present in publicly available population databases like 1000 Genomes, EVS, gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. This variant has not been reported in literature or any clinical databases like ClinVar, Human Genome Mutation Database (HGMD) and OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious. The variant causes frameshift at the 121th amino acid position of the wild-type transcript which creates a translational premature stop signal at the 180th amino acid position of the altered transcript that either may causes nonsense mediated decay of the mRNA or results in translating a truncated protein.

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