Submissions for variant NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)

gnomAD frequency: 0.00001  dbSNP: rs528989984

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221653	SCV000271600	uncertain significance	not specified	2015-02-20	criteria provided, single submitter	clinical testing	The p.Arg627Gln variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 7/16206 of South Asian chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools an d conservation analyses do not provide strong support for or against an impact t o the protein. In summary, the clinical significance of the p.Arg627Gln variant is uncertain.
GeneDx	RCV001589125	SCV001814279	uncertain significance	not provided	2023-06-12	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp	RCV001589125	SCV002138701	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing