ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)

gnomAD frequency: 0.00002  dbSNP: rs752746395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987435 SCV002219927 benign Ehlers-Danlos syndrome, classic type, 1 2024-05-16 criteria provided, single submitter clinical testing
GeneDx RCV002284502 SCV002574270 uncertain significance not provided 2022-03-17 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 does not alter 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: 22696272)
Ambry Genetics RCV002344093 SCV002649609 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-10-31 criteria provided, single submitter clinical testing The p.E403V variant (also known as c.1208A>T), located in coding exon 8 of the COL5A1 gene, results from an A to T substitution at nucleotide position 1208. The glutamic acid at codon 403 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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