ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)

gnomAD frequency: 0.00006  dbSNP: rs187022757
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485789 SCV000574085 uncertain significance not provided 2024-02-22 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 RCV002230960 SCV000631479 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313259 SCV000738600 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-18 criteria provided, single submitter clinical testing The p.P995T variant (also known as c.2983C>A), located in coding exon 38 of the COL5A1 gene, results from a C to A substitution at nucleotide position 2983. The proline at codon 995 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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 variant remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000485789 SCV004225173 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701538 SCV005205354 likely benign not specified 2024-06-04 criteria provided, single submitter clinical testing

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