ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) (rs140646380)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190743 SCV000244184 uncertain significance Inborn genetic diseases 2014-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Color RCV000771816 SCV000904519 likely benign Thoracic aortic aneurysm and aortic dissection 2018-05-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726900 SCV000703976 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000726900 SCV000233391 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing The G1341S variant of uncertain significance in the COL3A1 gene has not been published as pathogenic or been reported as benign to our knowledge. The G1341S 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. 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, although the G1341S variant affects a Glycine residue, it is not located 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). Furthermore, the Exome Aggregation Consortium (ExAC) reports G1341S was observed in 22/66,636 alleles from individuals of European (Non-Finnish) ancestry (Lek et al., 2016).
Illumina Clinical Services Laboratory,Illumina RCV000351166 SCV000425549 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000351166 SCV000756069 likely benign Ehlers-Danlos syndrome, type 4 2017-08-14 criteria provided, single submitter clinical testing

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