ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) (rs199998065)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484010 SCV000568105 uncertain significance not provided 2018-10-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A1 gene. The R1637H variant has not been published as pathogenic or been reported as benign to our knowledge. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R1637H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, the R1637H variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL5A1 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012). Finally, the Exome Aggregation Consortium (ExAC) reports R1637H was observed in 3/11,208 alleles from individuals of Latino ancestry, 2/9,600 alleles from individuals of African ancestry, and 8/63,786 alleles from individuals of European (Non-Finnish) ancestry (Lek et al., 2016).
Invitae RCV000527603 SCV000631535 likely benign Ehlers-Danlos syndrome, classic type 2017-06-16 criteria provided, single submitter clinical testing

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