Submissions for variant NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr)

gnomAD frequency: 0.00001  dbSNP: rs376421641

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001546597	SCV001766138	uncertain significance	not provided	2021-06-15	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001546597	SCV002317838	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004738335	SCV005348357	uncertain significance	COL11A1-related disorder	2024-08-09	no assertion criteria provided	clinical testing	The COL11A1 c.1129G>T variant is predicted to result in the amino acid substitution p.Asp377Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.