Submissions for variant NM_000093.5(COL5A1):c.804C>T (p.Gly268=)

gnomAD frequency: 0.00009  dbSNP: rs147729713

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197127	SCV000249776	benign	not specified	2014-09-05	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.
Eurofins Ntd Llc (ga)	RCV000725830	SCV000339679	uncertain significance	not provided	2016-03-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343839	SCV000478513	uncertain significance	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315534	SCV000738603	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-08-09	criteria provided, single submitter	clinical testing	The c.804C>T variant (also known as p.G268G), located in coding exon 6, results from a C to T substitution at nucleotide position 804 of the COL5A1 gene. This nucleotide substitution does not change the amino acid at codon 268. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Based on data from gnomAD, the T allele has an overall frequency of 0.01% (28/282766) total alleles studied. The highest observed frequency was 0.02% (21/129140) of European (non-Finnish) alleles. This nucleotide position is not conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229038	SCV001654196	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725830	SCV003800219	likely benign	not provided	2022-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725830	SCV004032898	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000725830	SCV004225164	uncertain significance	not provided	2022-03-16	criteria provided, single submitter	clinical testing	BS1, BP4, BP7, PS3_supporting