ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3583G>A (p.Val1195Ile)

dbSNP: rs1891570676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054056 SCV001218349 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2021-12-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1195 of the MLH3 protein (p.Val1195Ile). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 849986). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences RCV004751866 SCV005355473 uncertain significance MLH3-related disorder 2024-07-17 no assertion criteria provided clinical testing The MLH3 c.3583G>A variant is predicted to result in the amino acid substitution p.Val1195Ile. To our knowledge, this variant has not been reported in the literature or in gnomAD, indicating this variant is rare. This variant is classified as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/849986/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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