ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) (rs747527726)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000267790 SCV000790733 pathogenic Methylmalonic acidemia with homocystinuria 2017-04-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723444 SCV000331039 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000267790 SCV000919668 pathogenic Methylmalonic acidemia with homocystinuria 2017-11-22 criteria provided, single submitter clinical testing Variant summary: The MMACHC c.615C>G (p.Tyr205X) 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. A truncation downstream of this position, c.666C>A (p.Tyr222X) has been classified as pathogenic by our laboratory. This variant was found in 5/246214 control chromosomes (gnomAD) at a frequency of 0.0000203, which does not exceed the estimated maximal expected allele frequency of a pathogenic MMACHC variant (0.0030542). The variant of interst has been reported in multiple affected compound heterozygote and homozygote cblC pts (Lerner-Ellis_2006). In addition, a clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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