ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)

gnomAD frequency: 0.00083  dbSNP: rs149212775
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264146 SCV000478586 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697786 SCV000534332 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Invitae RCV002230208 SCV001007474 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000866387 SCV001328226 benign Ehlers-Danlos syndrome, classic type 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV002230208 SCV002554653 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270228 SCV002554654 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328893 SCV002634439 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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