ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)

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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 RCV003334461 SCV004042825 likely pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2023-10-06 criteria provided, single submitter clinical testing The c.166C>T 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 reported in the literature in individuals with ADPRS-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious however these predictions were not confirmed by published functional studies. This variant creates a premature translational stop signal at the 56th amino acid position of the transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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