ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) (rs1131691353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494257 SCV000581938 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL3A1 gene. The D1453N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D1453N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the D1453N variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL3A1 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012).
GenomeConnect, ClinGen RCV000509367 SCV000607217 not provided Ehlers-Danlos syndrome, type 4 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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