ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)

gnomAD frequency: 0.00003  dbSNP: rs1436390158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523464 SCV000619001 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A2 gene. The R1440S variant has not been published as pathogenic or been reported as benign to our knowledge. The R1440S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1440S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Furthermore, 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 R1440S variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL5A2 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV001853638 SCV002120861 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-08-23 criteria provided, single submitter clinical testing

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