ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3398C>A (p.Thr1133Asn)

gnomAD frequency: 0.00001  dbSNP: rs730881805
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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 RCV000555103 SCV000624855 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572827 SCV000669960 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-03 criteria provided, single submitter clinical testing The p.T1133N variant (also known as c.3398C>A), located in coding exon 5 of the MSH6 gene, results from a C to A substitution at nucleotide position 3398. The threonine at codon 1133 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568710 SCV005054823 uncertain significance Endometrial carcinoma 2024-03-25 criteria provided, single submitter clinical testing

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