ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.78G>C (p.Gln26His)

dbSNP: rs2080901714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211630 SCV001383179 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-03-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MLH1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MLH1 protein function. ClinVar contains an entry for this variant (Variation ID: 941778). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 26 of the MLH1 protein (p.Gln26His).
All of Us Research Program, National Institutes of Health RCV004010683 SCV004830734 uncertain significance Lynch syndrome 2023-06-28 criteria provided, single submitter clinical testing

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