ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2875A>G (p.Thr959Ala)

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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 RCV004062488 SCV002749541 uncertain significance not specified 2022-03-24 criteria provided, single submitter clinical testing The p.T959A variant (also known as c.2875A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 2875. The threonine at codon 959 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008587 SCV005635775 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-01-22 criteria provided, single submitter clinical testing

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