Submissions for variant NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)

dbSNP: rs372806452

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195604	SCV001366003	uncertain significance	not specified	2019-04-12	criteria provided, single submitter	clinical testing	The p.Pro1115Ser variant in COL11A2 has not been previously reported in individuals with hearing loss or other COL11A2-related disorders, but has been identified in 0.04% (10/21474) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that the Pro1115Ser variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4.
GeneDx	RCV001547914	SCV001767727	uncertain significance	not provided	2023-08-31	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001547914	SCV002296809	benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001547914	SCV004227229	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing	PM2_supporting