ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) (rs118204003)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413402 SCV000490608 pathogenic not provided 2017-01-27 criteria provided, single submitter clinical testing The P357L missense variant in the MAT1A gene has been reported previously in association with methionine adenosyltransferase I/III (MAT I/III) deficiency in a patient who was found to be compound heterozygous for P357L and another variant in the MAT1A gene and who had very low MAT activity in a liver biopsy sample (Ubagai et al., 1995). Expression studies found that P357L is associated with low but detectable MAT enzyme activity (Ubagai et al., 1995). In summary, we interpret P357L in MAT1A to be a pathogenic variant.
Invitae RCV000001263 SCV000950753 likely pathogenic Hepatic methionine adenosyltransferase deficiency 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 357 of the MAT1A protein (p.Pro357Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs118204003, ExAC 0.006%). This variant has been observed in several individuals affected with isolated hypermethioninemia (PMID: 7560086, 15935930). ClinVar contains an entry for this variant (Variation ID: 1204). This variant has been reported to affect MAT1A protein function (PMID:7560086). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000001263 SCV000021413 pathogenic Hepatic methionine adenosyltransferase deficiency 1995-10-01 no assertion criteria provided literature only

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