ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) (rs201312386)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664859 SCV000788880 uncertain significance Methylmalonic acidemia with homocystinuria 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000664859 SCV000954298 uncertain significance Methylmalonic acidemia with homocystinuria 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 158 of the MMACHC protein (p.Phe158Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs201312386, ExAC 0.03%). This variant has not been reported in the literature in individuals with MMACHC-related disease. 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: "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.

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