ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)

gnomAD frequency: 0.00001  dbSNP: rs755472574
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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 RCV001341596 SCV001535476 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 51 of the MMADHC protein (p.Ile51Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs755472574, ExAC 0.002%). 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: "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.
Natera, Inc. RCV001341596 SCV002083922 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2021-03-12 no assertion criteria provided clinical testing

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