ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)

gnomAD frequency: 0.00006  dbSNP: rs199530997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197634 SCV000249974 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Invitae RCV002229471 SCV001007753 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277499 SCV002565822 uncertain significance Ehlers-Danlos syndrome 2021-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433875 SCV002745826 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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