ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155654 SCV003844400 likely pathogenic Cobalamin C disease 2023-02-01 criteria provided, single submitter clinical testing Variant summary: MMACHC c.685C>T (p.Gln229X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in HGMD in association with Methylmalonic aciduria & homocystinuria, cblC type. The variant allele was found at a frequency of 8e-06 in 249140 control chromosomes. To our knowledge, no occurrence of c.685C>T in individuals affected with Methylmalonic Acidemia With Homocystinuria and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003155654 SCV004193214 likely pathogenic Cobalamin C disease 2022-04-09 criteria provided, single submitter clinical testing

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