ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1688C>G (p.Thr563Ser)

dbSNP: rs1386014501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579771 SCV000685213 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579771 SCV001173203 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-27 criteria provided, single submitter clinical testing The p.T563S variant (also known as c.1688C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 1688. The threonine at codon 563 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001296048 SCV001485003 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465292 SCV004195597 uncertain significance Endometrial carcinoma 2023-08-11 criteria provided, single submitter clinical testing

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