Submissions for variant NM_006231.4(POLE):c.5811+5G>A

gnomAD frequency: 0.00004  dbSNP: rs562946055

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000574547	SCV000671695	uncertain significance	Hereditary cancer-predisposing syndrome	2020-01-03	criteria provided, single submitter	clinical testing	The c.5811+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 42 in the POLE gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001284338	SCV000961689	likely benign	not provided	2024-12-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284338	SCV001470074	uncertain significance	not provided	2020-04-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001284338	SCV004024055	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing	In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge