ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.214G>A (p.Val72Met)

dbSNP: rs958052810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507973 SCV001713840 uncertain significance not provided 2020-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865930 SCV002230317 uncertain significance PHGDH deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 72 of the PHGDH protein (p.Val72Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PHGDH-related conditions. 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: "Probably 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.
Genome-Nilou Lab RCV003339658 SCV004049044 uncertain significance Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001865930 SCV004049045 uncertain significance PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing

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