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

dbSNP: rs184131049

Total submissions: 4

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001046197	SCV001210091	benign	Hereditary nonpolyposis colorectal neoplasms	2024-10-23	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003463708	SCV004195676	uncertain significance	Endometrial carcinoma	2023-07-06	criteria provided, single submitter	clinical testing