ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser)

gnomAD frequency: 0.00001  dbSNP: rs755349360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164691 SCV000215358 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-24 criteria provided, single submitter clinical testing The p.T1238S variant (also known as c.3713C>G), located in coding exon 8 of the MSH6 gene, results from a C to G substitution at nucleotide position 3713. The threonine at codon 1238 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458549 SCV000551205 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000485750 SCV000565234 uncertain significance not provided 2024-11-13 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17531815, 21120944)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226225 SCV003922557 uncertain significance not specified 2023-03-10 criteria provided, single submitter clinical testing

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