ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1117G>T (p.Ala373Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060573 SCV003449490 uncertain significance PHGDH deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 373 of the PHGDH protein (p.Ala373Ser). This variant is present in population databases (rs201553627, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of phosphoglycerate dehydrogenase deficiency (PMID: 33087887). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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