ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) (rs886041401)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000369962 SCV000330000 pathogenic not provided 2019-04-03 criteria provided, single submitter clinical testing Published functional studies demonstrate that L45P leads to abnormal localization of protein in the cell and improper folding of the von Willebrand factor domain (Deuquet et al., 2009); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25458638, 14508707, 19191226, 29801470, 29620724, 31130284)
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261563 SCV001438829 pathogenic Hyaline fibromatosis syndrome criteria provided, single submitter clinical testing
Baylor Genetics RCV001261563 SCV001523658 pathogenic Hyaline fibromatosis syndrome 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001261563 SCV001469151 likely pathogenic Hyaline fibromatosis syndrome 2020-11-12 no assertion criteria provided clinical testing

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