Submissions for variant NM_000535.7(PMS2):c.75G>A (p.Gln25=)

dbSNP: rs1554306525

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000582802	SCV000691112	likely benign	Hereditary cancer-predisposing syndrome	2017-06-08	criteria provided, single submitter	clinical testing
Invitae	RCV001433232	SCV001636021	likely benign	Hereditary nonpolyposis colorectal neoplasms	2022-08-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003155240	SCV003844491	likely benign	not specified	2023-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582802	SCV003853866	uncertain significance	Hereditary cancer-predisposing syndrome	2022-11-08	criteria provided, single submitter	clinical testing	The c.75G>A variant (also known as p.Q25Q), located in coding exon 2 of the PMS2 gene, results from a G to A substitution at nucleotide position 75. This nucleotide substitution does not change the glutamine at codon 25. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003992336	SCV004810574	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	PMS2: PM2:Supporting, BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004002370	SCV004842172	likely benign	Lynch syndrome	2023-12-13	criteria provided, single submitter	clinical testing