ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)

dbSNP: rs2105041421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936833 SCV002226498 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 270 of the MMADHC protein (p.Trp270Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MMADHC-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: "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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