Submissions for variant NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)

gnomAD frequency: 0.00014  dbSNP: rs200073020

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198985	SCV000249760	benign	not specified	2015-03-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511777	SCV001719074	benign	Ehlers-Danlos syndrome, classic type, 1	2023-04-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001511777	SCV002554616	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269996	SCV002554617	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277468	SCV002565746	likely benign	Ehlers-Danlos syndrome	2019-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327030	SCV002627563	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003907715	SCV004726872	likely benign	COL5A1-related disorder	2019-06-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).