ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg)

gnomAD frequency: 0.00001  dbSNP: rs118204006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782002 SCV005395125 uncertain significance not specified 2024-09-10 criteria provided, single submitter clinical testing Variant summary: MAT1A c.1006G>A (p.Gly336Arg) results in a non-conservative amino acid change located in the S-adenosylmethionine synthetase, C-terminal domain (IPR022630) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251470 control chromosomes (gnomAD). c.1006G>A has been reported in the literature in at least an individual affected with hypermethioninemia (example: Chamberlin_2000). These data do not allow any conclusion about variant significance. In vitro functional studies show reduced activity for the variant (Chamberlin_2000). The following publication has been ascertained in the context of this evaluation (PMID: 10677294). ClinVar contains an entry for this variant (Variation ID: 1211). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820815 SCV005442308 likely pathogenic not provided 2024-12-19 criteria provided, single submitter clinical testing
OMIM RCV000001270 SCV000021420 pathogenic Hepatic methionine adenosyltransferase deficiency 2000-02-01 no assertion criteria provided literature only

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