ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) (rs147868179)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249823 SCV000319821 uncertain significance Cardiovascular phenotype 2015-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
GeneDx RCV000195738 SCV000249827 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A1 gene. The A1356T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed 0.2-0.3% of alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is only conserved in mammals and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, while the A1356T variant is located in a Gly-X-Y motif in the triple helical region of the COL5A1 gene, does not affect a Glycine residue, as the majority of pathogenic missense variants do (Stenson et al., 2014; Symoens et al., 2012). Nevertheless, the A1356T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
Invitae RCV000527047 SCV000631512 likely benign Ehlers-Danlos syndrome, classic type 2017-06-29 criteria provided, single submitter clinical testing

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