ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)

gnomAD frequency: 0.00002  dbSNP: rs201186702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198093 SCV000250017 uncertain significance not provided 2023-08-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002229102 SCV000631591 benign Ehlers-Danlos syndrome, classic type, 1 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321788 SCV002607740 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-29 criteria provided, single submitter clinical testing The p.T1057N variant (also known as c.3170C>A), located in coding exon 45 of the COL5A2 gene, results from a C to A substitution at nucleotide position 3170. The threonine at codon 1057 is replaced by asparagine, an amino acid with similar 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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