ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)

gnomAD frequency: 0.00004  dbSNP: rs372168541
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000415868 SCV000249860 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with classic EDS to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 32935436, 29924831)
CeGaT Center for Human Genetics Tuebingen RCV000415868 SCV000493356 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229457 SCV000932763 benign Ehlers-Danlos syndrome, classic type, 1 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020354 SCV005032390 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-08 criteria provided, single submitter clinical testing The p.H49Y variant (also known as c.145C>T), located in coding exon 2 of the COL5A1 gene, results from a C to T substitution at nucleotide position 145. The histidine at codon 49 is replaced by tyrosine, an amino acid with similar properties. This alteration has been reported in a keratoconus cohort (Lucas SEM et al. PLoS One, 2018 Jun;13:e0199178). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Birmingham Platelet Group; University of Birmingham RCV001270606 SCV001450905 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.