ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.838_842del (p.Ser280fs)

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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 RCV004798109 SCV005419241 likely pathogenic Hermansky-Pudlak syndrome 4 2024-11-08 criteria provided, single submitter clinical testing The c.838_842del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, Indian Exome Database or our in-house exome database. The variant present is present in the gnomAD database at a low frequency. This variant has neither been published in literature in individuals with HPS4-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted the variant to be likely deleterious. This variant causes frameshift at the 280th 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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