Submissions for variant NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)

dbSNP: rs776564144

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000601788	SCV000725148	likely benign	not specified	2017-11-28	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.
Blueprint Genetics	RCV000788533	SCV000927682	uncertain significance	not provided	2018-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003302948	SCV003996339	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-04-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003594003	SCV004290854	benign	Ehlers-Danlos syndrome, classic type, 1	2024-12-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962792	SCV004781759	likely benign	COL5A1-related disorder	2020-02-25	no assertion criteria provided	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).