ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3656T>C (p.Leu1219Pro)

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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 RCV004049579 SCV002617516 uncertain significance not specified 2024-06-29 criteria provided, single submitter clinical testing The p.L1219P variant (also known as c.3656T>C), located in coding exon 6 of the MLH3 gene, results from a T to C substitution at nucleotide position 3656. The leucine at codon 1219 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV005008539 SCV005635757 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-06-08 criteria provided, single submitter clinical testing

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