ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)

gnomAD frequency: 0.00067  dbSNP: rs146795035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814185 SCV000954586 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 152 of the MMADHC protein (p.Thr152Arg). This variant is present in population databases (rs146795035, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 657556). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV000814185 SCV002786095 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2021-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814185 SCV001461408 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2020-01-17 no assertion criteria provided clinical testing

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