Submissions for variant NM_000179.3(MSH6):c.112C>T (p.Pro38Ser)

gnomAD frequency: 0.00001  dbSNP: rs764009461

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479105	SCV000567920	uncertain significance	not provided	2019-07-17	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics	RCV000575631	SCV000662373	uncertain significance	Hereditary cancer-predisposing syndrome	2023-10-17	criteria provided, single submitter	clinical testing	The p.P38S variant (also known as c.112C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide position 112. The proline at codon 38 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV000575631	SCV000908336	uncertain significance	Hereditary cancer-predisposing syndrome	2018-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001040637	SCV001204222	benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575631	SCV002535598	uncertain significance	Hereditary cancer-predisposing syndrome	2021-04-14	criteria provided, single submitter	curation