ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1509+2T>C (rs1553508039)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608512 SCV000731708 likely pathogenic Ehlers-Danlos syndrome, type 4 2017-10-09 criteria provided, single submitter clinical testing The c.1509+2T>C variant in COL3A1 has not been previously reported in individual s with Ehlers-Danlos syndrome (EDS) type IV (vascular type) or in large populati on studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abno rmal or absent protein. The spectrum of reported pathogenic COL3A1 variants incl udes splice variants with genotype-phenotype correlations showing a more severe effect when the effect is exon skipping (versus loss of function, which is assoc iated with a milder presentation: Pepin 2015, GeneReviews: https://www.ncbi.nlm. nih.gov/books/NBK1494/). In summary, although additional studies are required to fully establish its clinical significance, the c.1509+2T>C variant is likely pa thogenic.

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