ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.292G>A (p.Gly98Ser)

dbSNP: rs1554841212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497370 SCV000589643 likely pathogenic not provided 2015-12-30 criteria provided, single submitter clinical testing The c.292 G>A variant has been previously reported in association with methionine adenosyltransferase I/III (MAT I/III) deficiency in an affected patient homozygous for the variant (Chamberlin et al., 2000). Protein expression with the p.G98S missense change in COS cells showed no altered enzyme activity; however, splicing studies found that the c.292 G>A change caused abnormal splicing of the protein. The c.292 G>A variant is predicted to reduce the quality of the natural splice donor site in exon 3. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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