ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3388G>A (p.Asp1130Asn)

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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 RCV004047888 SCV002614566 uncertain significance not specified 2024-03-14 criteria provided, single submitter clinical testing The p.D1130N variant (also known as c.3388G>A), located in coding exon 3 of the MLH3 gene, results from a G to A substitution at nucleotide position 3388. The aspartic acid at codon 1130 is replaced by asparagine, an amino acid with highly 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 RCV005008536 SCV005635765 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-01-10 criteria provided, single submitter clinical testing

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