ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)

gnomAD frequency: 0.00006  dbSNP: rs140486644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198537 SCV000249900 uncertain significance not provided 2024-12-26 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; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002228859 SCV001201526 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000198537 SCV001714938 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380514 SCV004091655 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-03 criteria provided, single submitter clinical testing The p.P761S variant (also known as c.2281C>T), located in coding exon 25 of the COL5A1 gene, results from a C to T substitution at nucleotide position 2281. The proline at codon 761 is replaced by serine, an amino acid with 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.

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