ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674536 SCV000799888 pathogenic Methylmalonic acidemia with homocystinuria 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000674536 SCV000958795 pathogenic Methylmalonic acidemia with homocystinuria 2019-01-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MMACHC gene (p.Tyr205*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the MMACHC protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with combined methylmalonic aciduria and homocystinuria (PMID: 19914430, 20631720). ClinVar contains an entry for this variant (Variation ID: 558292). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. A different variant (c.615C>G) giving rise to the same protein effect observed here (p.Tyr205*) has been determined to be pathogenic (PMID: 16311595, 25388550). This suggests that this variant is also likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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