ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2999C>T (p.Ser1000Phe)

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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 RCV004640984 SCV005131717 uncertain significance not specified 2024-05-19 criteria provided, single submitter clinical testing The p.S1000F variant (also known as c.2999C>T), located in coding exon 1 of the MLH3 gene, results from a C to T substitution at nucleotide position 2999. The serine at codon 1000 is replaced by phenylalanine, an amino acid with highly 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 variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006469 SCV005635772 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-30 criteria provided, single submitter clinical testing

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