Submissions for variant NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)

gnomAD frequency: 0.00598  dbSNP: rs61739195

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124449	SCV000167882	benign	not specified	2013-02-21	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	RCV001507242	SCV000262161	benign	Ehlers-Danlos syndrome, classic type, 1	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124449	SCV000302208	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310685	SCV000319453	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-03-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000372978	SCV000478568	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589919	SCV000695396	benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing	Variant summary: The COL5A1 c.4135C>T (p.Pro1379Ser) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. 4/5 in silico tools predict a damaging outcome for this variant, however these predictions have yet to be confirmed by functional studies. This variant was found in 900/121304 control chromosomes (7 homozygotes) at a frequency of 0.0074194, which is approximately 5935 times the estimated maximal expected allele frequency of a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Eurofins Ntd Llc (ga)	RCV000124449	SCV000703175	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000589919	SCV000883653	benign	not provided	2024-08-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000589919	SCV002546120	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	COL5A1: BS2
Genome-Nilou Lab	RCV001507242	SCV002554596	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269893	SCV002554597	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277207	SCV002565741	benign	Ehlers-Danlos syndrome	2022-05-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498593	SCV002812397	benign	Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal	2021-10-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000589919	SCV005226594	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124449	SCV001809232	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000124449	SCV001931282	benign	not specified		no assertion criteria provided	clinical testing