ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)

gnomAD frequency: 0.00199  dbSNP: rs145281966
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705101 SCV000249934 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311044 SCV000319820 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-29 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.
Illumina Laboratory Services, Illumina RCV000285467 SCV000425648 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461099 SCV000558987 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139415 SCV001299567 benign Ehlers-Danlos syndrome, classic type, 2 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330560 SCV004039254 likely benign not specified 2023-08-24 criteria provided, single submitter clinical testing

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