ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) (rs145355907)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497839 SCV000589466 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL1A2 gene. The P809S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 27/66740 (0.04%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The P809S 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Invitae RCV000497839 SCV000627314 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000680488 SCV000807866 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000791269 SCV000930555 uncertain significance Predisposition to dissection 2019-03-22 criteria provided, single submitter clinical testing

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