ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1183G>A (p.Ala395Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172138 SCV003858909 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-26 criteria provided, single submitter clinical testing The p.A395T variant (also known as c.1183G>A), located in coding exon 12 of the MLH1 gene, results from a G to A substitution at nucleotide position 1183. The alanine at codon 395 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009643 SCV004834473 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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