Submissions for variant NM_000093.5(COL5A1):c.1005C>T (p.Ile335=)

gnomAD frequency: 0.00002  dbSNP: rs761397885

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002240280	SCV001665745	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-04-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004038608	SCV005032297	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-10-05	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701168	SCV001926751	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701168	SCV001965976	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965915	SCV004784678	likely benign	COL5A1-related disorder	2023-04-14	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).