ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)

gnomAD frequency: 0.00002  dbSNP: rs781248560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576860 SCV000678217 uncertain significance Ehlers-Danlos syndrome, classic type 2017-08-01 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 4 p.Asp195Asn (c.583G>A): This variant has not been reported in the literature but is present in 5/111294 European individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs781248560). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. Of note, 5 other species (Gibbon, Dolphin, Killer Whale, Coelacanth, Zebrafish) carry this variant amino acid. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002232675 SCV000755936 benign Ehlers-Danlos syndrome, classic type, 1 2024-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358635 SCV002648394 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-07-06 criteria provided, single submitter clinical testing The p.D195N variant (also known as c.583G>A), located in coding exon 4 of the COL5A1 gene, results from a G to A substitution at nucleotide position 583. The aspartic acid at codon 195 is replaced by asparagine, an amino acid with highly 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.
GeneDx RCV004701670 SCV005201343 uncertain significance not provided 2023-05-02 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)

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