ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser)

dbSNP: rs587625944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001862124 SCV002192553 uncertain significance PHGDH deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 82 of the PHGDH protein (p.Asn82Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs587625944, ExAC 0.001%). 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: 591539). 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.
Gharavi Laboratory, Columbia University RCV000722719 SCV000853850 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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