ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3026A>C (p.Lys1009Thr)

dbSNP: rs587781593
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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 RCV001911362 SCV002173079 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002441001 SCV002754312 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-05 criteria provided, single submitter clinical testing The p.K1009T variant (also known as c.3026A>C), located in coding exon 4 of the MSH6 gene, results from an A to C substitution at nucleotide position 3026. The lysine at codon 1009 is replaced by threonine, 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.
Baylor Genetics RCV003464215 SCV004195754 uncertain significance Endometrial carcinoma 2023-05-31 criteria provided, single submitter clinical testing

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