ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.148T>G (p.Cys50Gly)

dbSNP: rs2149132074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002544204 SCV002009273 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544204 SCV002939581 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 50 of the PGK1 protein (p.Cys50Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PGK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1319463). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PGK1 protein function. 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.
Ambry Genetics RCV004040748 SCV005001203 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.148T>G (p.C50G) alteration is located in exon 3 (coding exon 3) of the PGK1 gene. This alteration results from a T to G substitution at nucleotide position 148, causing the cysteine (C) at amino acid position 50 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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