ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr)

gnomAD frequency: 0.00001  dbSNP: rs863223461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200017 SCV000249852 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272, HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002515350 SCV003514025 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165445 SCV003857691 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-15 criteria provided, single submitter clinical testing The p.C1645Y variant (also known as c.4934G>A), located in coding exon 62 of the COL5A1 gene, results from a G to A substitution at nucleotide position 4934. The cysteine at codon 1645 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700581 SCV005204972 uncertain significance not specified 2024-06-09 criteria provided, single submitter clinical testing

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