ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1675del (p.Glu559fs)

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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 RCV004059850 SCV002712778 uncertain significance not specified 2022-03-23 criteria provided, single submitter clinical testing The c.1675delG variant, located in coding exon 1 of the MLH3 gene, results from a deletion of one nucleotide at nucleotide position 1675, causing a translational frameshift with a predicted alternate stop codon (p.E559Kfs*51). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV005008575 SCV005635794 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-03-24 criteria provided, single submitter clinical testing

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