ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.816del (p.Val274fs)

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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 RCV004720564 SCV005326534 likely pathogenic Oculocutaneous albinism type 4 2024-09-12 criteria provided, single submitter clinical testing The c.816del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been previously observed in individuals affected with SLC45A2-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 MutationTaster2021, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. This variant causes frameshift at the 274th 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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