ClinVar Miner

Submissions for variant NM_001326411.2(PISD):c.322-1890_322-1889del

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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 RCV004798113 SCV005419245 likely pathogenic Liberfarb syndrome 2024-11-25 criteria provided, single submitter clinical testing The c.167_168del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our internal database. This variant has neither been published in literature with PISD-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2021, CADD, Franklin, Varsome, InterVar etc predicted this variant to be likely deleterious. This variant causes frameshift at the 56th amino acid position of the wild-type transcript which creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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