ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003076113 SCV003473063 uncertain significance PHGDH deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 131 of the PHGDH protein (p.Gly131Ser). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected 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: "Deleterious"; 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.
Ambry Genetics RCV003076114 SCV003570160 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.391G>A (p.G131S) alteration is located in exon 4 (coding exon 4) of the PHGDH gene. This alteration results from a G to A substitution at nucleotide position 391, causing the glycine (G) at amino acid position 131 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340623 SCV004049060 uncertain significance Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003076113 SCV004049061 uncertain significance PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing

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