Submissions for variant NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)

gnomAD frequency: 0.00010  dbSNP: rs374549843

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197533	SCV000249977	uncertain significance	not provided	2024-04-15	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Illumina Laboratory Services, Illumina	RCV000294359	SCV000425628	uncertain significance	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229091	SCV000631593	likely benign	Ehlers-Danlos syndrome, classic type, 1	2023-10-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315571	SCV000738690	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-06-21	criteria provided, single submitter	clinical testing	The p.R1060W variant (also known as c.3178C>T), located in coding exon 45 of the COL5A2 gene, results from a C to T substitution at nucleotide position 3178. The arginine at codon 1060 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197291	SCV001367941	uncertain significance	Ehlers-Danlos syndrome, classic type, 2	2019-03-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Mayo Clinic Laboratories, Mayo Clinic	RCV000197533	SCV001714076	uncertain significance	not provided	2019-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001197291	SCV002779720	uncertain significance	Ehlers-Danlos syndrome, classic type, 2	2021-11-12	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV000197533	SCV005196629	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing