ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)

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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 RCV003323341 SCV004028531 likely pathogenic Pyruvate kinase deficiency of red cells 2023-08-16 criteria provided, single submitter clinical testing The c.829G>T variant is not present in not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature for PKLR-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin, InterVar etc predicted the c.829G>T variant to be likely deleterious. This variant creates a premature stop signal at the 277th amino acid position of wild-type transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA. This individuals another heterozygous variant (c.657_677del) in PKLR gene.

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