ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) (rs398124295)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000383499 SCV000796728 pathogenic Methylmalonic acidemia with homocystinuria 2017-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790827 SCV000331270 pathogenic not provided 2013-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000383499 SCV000894027 pathogenic Methylmalonic acidemia with homocystinuria 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000383499 SCV000762778 pathogenic Methylmalonic acidemia with homocystinuria 2018-11-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MMACHC gene (p.Trp203*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 80 amino acids of the MMACHC protein. This variant is present in population databases (rs398124295, ExAC 0.02%). This variant has been reported in several individuals affected with methylmalonic aciduria and homocystinuria (PMID: 16311595, 23954310, 25772322). ClinVar contains an entry for this variant (Variation ID: 95706). A different variant (c.609G>A) giving rise to the same protein effect observed here (p.Trp203*) has been reported in multiple individuals affected with methylmalonic aciduria and homocystinuria (PMID: 16311595, 20631720, 25772322). For these reasons, this variant has been classified as Pathogenic.

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