ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)

gnomAD frequency: 0.00003  dbSNP: rs762108965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196134 SCV000249879 uncertain significance not provided 2023-08-02 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); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 27535533, 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229460 SCV001504388 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-12-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277487 SCV002565666 uncertain significance Ehlers-Danlos syndrome 2022-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336526 SCV002642847 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-24 criteria provided, single submitter clinical testing The p.A397T variant (also known as c.1189G>A), located in coding exon 8 of the COL5A1 gene, results from a G to A substitution at nucleotide position 1189. The alanine at codon 397 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other 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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