ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.67G>C (p.Val23Leu)

gnomAD frequency: 0.00001  dbSNP: rs374830220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177036 SCV001341147 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV002559714 SCV003018868 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-02-18 criteria provided, single submitter clinical testing 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 PMS2 protein function. ClinVar contains an entry for this variant (Variation ID: 919105). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is present in population databases (rs374830220, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 23 of the PMS2 protein (p.Val23Leu).

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