ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002298041 SCV002590063 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-11-20 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 MSH6 protein function. 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 lysine, which is basic and polar, with arginine, which is basic and polar, at codon 504 of the MSH6 protein (p.Lys504Arg).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596535 SCV005090479 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651975 SCV005145564 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-13 criteria provided, single submitter clinical testing The p.K504R variant (also known as c.1511A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 1511. The lysine at codon 504 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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