ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1154A>C (p.Asp385Ala)

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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 RCV004521108 SCV005037148 uncertain significance not specified 2024-03-01 criteria provided, single submitter clinical testing The p.D385A variant (also known as c.1154A>C), located in coding exon 1 of the MLH3 gene, results from an A to C substitution at nucleotide position 1154. The aspartic acid at codon 385 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003765 SCV005633313 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-02-29 criteria provided, single submitter clinical testing

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