ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)

gnomAD frequency: 0.00003  dbSNP: rs143340742
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819559 SCV002068700 uncertain significance not specified 2019-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542035 SCV003278585 uncertain significance PHGDH deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 311 of the PHGDH protein (p.Ser311Phe). This variant is present in population databases (rs143340742, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1337073). 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: "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.
Ambry Genetics RCV002542034 SCV003529033 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.932C>T (p.S311F) alteration is located in exon 8 (coding exon 8) of the PHGDH gene. This alteration results from a C to T substitution at nucleotide position 932, causing the serine (S) at amino acid position 311 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339754 SCV004049102 uncertain significance Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002542035 SCV004049103 uncertain significance PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing

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