ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.548C>T (p.Pro183Leu)

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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 RCV005234888 SCV005882848 uncertain significance Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 2025-01-17 criteria provided, single submitter clinical testing The c.548C>T variant is not present in publicly available population databases like 1000 Genomes, gnomAD, EVS, ExAC, Indian Exome Database or our in-house exome database. This variant has neither been published in literature in individuals affected with PNPT1-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 SIFT, Polyphen-2, MutationTaster2, CADD etc predicted this variant to be likely deleterious however these predictions were not confirmed by published functional studies.

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