ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)

dbSNP: rs184131049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239122 SCV000296882 uncertain significance Lynch syndrome 2015-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021599 SCV001183235 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-17 criteria provided, single submitter clinical testing The p.R1331L variant (also known as c.3992G>T), located in coding exon 9 of the MSH6 gene, results from a G to T substitution at nucleotide position 3992. The arginine at codon 1331 is replaced by leucine, an amino acid with dissimilar 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.
Invitae RCV001046197 SCV001210091 benign Hereditary nonpolyposis colorectal neoplasms 2023-11-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463708 SCV004195676 uncertain significance Endometrial carcinoma 2023-07-06 criteria provided, single submitter clinical testing

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