ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) (rs201266016)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000590695 SCV000791247 pathogenic Methylmalonic acidemia with homocystinuria 2017-05-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590695 SCV000699404 pathogenic Methylmalonic acidemia with homocystinuria 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The MMACHC c.666C>A (p.Tyr222X) variant results in a premature termination codon, predicted to cause a truncated or absent MMACHC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. MutationTaster predicts a damaging outcome for this variant. This variant was found in the large control database ExAC and control cohorts from the literature at a frequency of 0.0000496 (6/120940 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic MMACHC variant (0.0030542). The variant has been identified in numerous patients who were homozygous or compound heterozygous with a known mutation, several of whom were reported as having an early onset of disease. Taken together, this variant is classified as pathogenic.

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