ClinVar Miner

Submissions for variant NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)

gnomAD frequency: 0.00001  dbSNP: rs121964925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556005 SCV004294690 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt BPGM protein function. ClinVar contains an entry for this variant (Variation ID: 12091). This variant is also known as Arg89Cys. This missense change has been observed in individual(s) with clinical features of familial erythrocytosis (PMID: 1421379). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs121964925, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the BPGM protein (p.Arg90Cys).
OMIM RCV000012872 SCV000033113 pathogenic Deficiency of bisphosphoglycerate mutase 1992-11-15 no assertion criteria provided literature only

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