Submissions for variant NM_000179.3(MSH6):c.3878C>G (p.Ala1293Gly)

gnomAD frequency: 0.00001  dbSNP: rs764835191

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001924322	SCV002207011	likely benign	Hereditary nonpolyposis colorectal neoplasms	2022-12-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002361252	SCV002623807	uncertain significance	Hereditary cancer-predisposing syndrome	2022-03-29	criteria provided, single submitter	clinical testing	The p.A1293G variant (also known as c.3878C>G), located in coding exon 9 of the MSH6 gene, results from a C to G substitution at nucleotide position 3878. The alanine at codon 1293 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics	RCV003464246	SCV004195746	uncertain significance	Endometrial carcinoma	2023-06-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004010906	SCV004834457	uncertain significance	Lynch syndrome	2024-01-11	criteria provided, single submitter	clinical testing