ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)

gnomAD frequency: 0.00007  dbSNP: rs373448943
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002229183 SCV000262013 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000482273 SCV000568021 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Mayo Clinic Laboratories, Mayo Clinic RCV000482273 SCV001716051 uncertain significance not provided 2020-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336571 SCV002638260 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-28 criteria provided, single submitter clinical testing The p.I1573V variant (also known as c.4717A>G), located in coding exon 62 of the COL5A1 gene, results from an A to G substitution at nucleotide position 4717. The isoleucine at codon 1573 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002500661 SCV002813308 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-08 criteria provided, single submitter clinical testing

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