ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)

dbSNP: rs118204083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512653 SCV003523246 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Arg163 amino acid residue in PKLR. Other variant(s) that disrupt this residue have been observed in individuals with PKLR-related conditions (PMID: 2018831, 19085939), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects PKLR function (PMID: 2018831). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1506). This variant is also known as PK Linz variant, a C to T base exchange at position 394 . This missense change has been observed in individual(s) with pyruvate kinase deficiency (PMID: 2018831; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 163 of the PKLR protein (p.Arg163Cys).
OMIM RCV000001571 SCV000021726 pathogenic Pyruvate kinase deficiency of red cells 1991-05-01 no assertion criteria provided literature only

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