ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.905T>G (p.Leu302Arg)

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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 RCV004825383 SCV005444184 uncertain significance not specified 2024-09-25 criteria provided, single submitter clinical testing The p.L302R variant (also known as c.905T>G), located in coding exon 1 of the MLH3 gene, results from a T to G substitution at nucleotide position 905. The leucine at codon 302 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003814 SCV005633321 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2023-12-29 criteria provided, single submitter clinical testing

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