ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2489C>T (p.Ser830Phe)

dbSNP: rs1669469593
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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 RCV001236889 SCV001409629 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-12-18 criteria provided, single submitter clinical testing 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 MSH6 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 962943). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 830 of the MSH6 protein (p.Ser830Phe).
Baylor Genetics RCV003462802 SCV004195671 uncertain significance Endometrial carcinoma 2023-07-11 criteria provided, single submitter clinical testing

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