ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2783C>A (p.Thr928Asn)

dbSNP: rs781482454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630100 SCV000751056 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016596 SCV001177562 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-04 criteria provided, single submitter clinical testing The p.T928N variant (also known as c.2783C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2783. The threonine at codon 928 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly 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.
GeneDx RCV001756039 SCV002006361 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465740 SCV002760664 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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