ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)

gnomAD frequency: 0.00177  dbSNP: rs368468
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000357938 SCV000337816 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000659078 SCV000512688 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing Occurs in the triple helical domain at the {X/Y} position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the {X/Y} position is not a common mechanism of disease (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 27056980)
Invitae RCV002229746 SCV000627357 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659078 SCV000780887 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL1A2: BS1
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659372 SCV000781183 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162478 SCV001324433 benign Osteogenesis imperfecta 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001162479 SCV001324434 benign Ehlers-danlos syndrome, arthrochalasia type, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000659078 SCV001472564 likely benign not provided 2023-04-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000357938 SCV001880399 benign not specified 2021-04-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278292 SCV002565594 likely benign Ehlers-Danlos syndrome 2022-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418116 SCV002678508 likely benign Cardiovascular phenotype 2019-03-01 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000659078 SCV001798692 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000357938 SCV001808557 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000659078 SCV001971080 likely benign not provided no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV003987490 SCV004804570 not provided Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 11-09-2018 by Baylor Genetics. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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