Submissions for variant NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)

dbSNP: rs148901664

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000771286	SCV000738523	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-18	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.
Color Diagnostics, LLC DBA Color Health	RCV000771286	SCV000903451	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000826942	SCV000968541	likely benign	not provided	2021-06-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080398	SCV001013265	benign	Ehlers-Danlos syndrome, type 4	2024-12-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001080398	SCV004825443	benign	Ehlers-Danlos syndrome, type 4	2023-09-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544809	SCV004789612	likely benign	COL3A1-related disorder	2020-03-16	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).