ClinVar Miner

Submissions for variant NM_005956.4(MTHFD1):c.1096C>T (p.Arg366Trp)

gnomAD frequency: 0.00009  dbSNP: rs139612806
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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 RCV001947342 SCV002137319 uncertain significance not provided 2022-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 366 of the MTHFD1 protein (p.Arg366Trp). This variant is present in population databases (rs139612806, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MTHFD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367539). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV005006121 SCV005629414 uncertain significance Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 2024-02-06 criteria provided, single submitter clinical testing

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