ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) (rs376993881)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763218 SCV000893844 pathogenic Hepatic methionine adenosyltransferase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000481494 SCV000566243 pathogenic not provided 2016-06-03 criteria provided, single submitter clinical testing The R299C missense variant in the MAT1A gene has been reported previously inassociation with methionine adenosyltransferase I/III (MAT I/III) deficiency in a patient whowas homozygous for this variant (Fernandez-Irigoyen et al., 2010). Functional studiesfound that R299C results in low activities of both methionine adenosyltransferase andtripolyphosphatase (Fernandez-Irigoyen et al., 2010). The R219H variant has not been published as apathogenic variant, nor has it been reported as a benign variant to our knowledge. The R219H variantis a conservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is conserved inmammals. In silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function. Therefore, we interpret R299C as a pathogenic variant.

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