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
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.
Counsyl RCV000590695 SCV000791247 pathogenic Methylmalonic acidemia with homocystinuria 2017-05-15 no assertion criteria provided clinical testing

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