ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.48C>T (p.Thr16=)

gnomAD frequency: 0.00004  dbSNP: rs780687409
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231246 SCV000627351 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-03 criteria provided, single submitter clinical testing
GeneDx RCV001697018 SCV000718482 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680483 SCV000807861 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162376 SCV001324327 benign Ehlers-danlos syndrome, arthrochalasia type, 2 2018-01-12 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.
Illumina Laboratory Services, Illumina RCV001162377 SCV001324328 benign Osteogenesis imperfecta 2018-01-12 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.
Ambry Genetics RCV002341261 SCV002635810 likely benign Cardiovascular phenotype 2020-11-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001697018 SCV004564366 likely benign not provided 2023-02-27 criteria provided, single submitter clinical testing

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