ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) (rs141093638)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186037 SCV000708796 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000186037 SCV000239001 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing The R216G variant in the MMADHC gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R216G variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R216G variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R216G as a variant of unknown significance. This variant has been observed to be maternally inherited.
Invitae RCV000641147 SCV000762769 likely benign Methylmalonic acidemia with homocystinuria cblD 2017-10-07 criteria provided, single submitter clinical testing

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