ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) (rs149722210)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178514 SCV000230606 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000178514 SCV000233382 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CSER_CC_NCGL; University of Washington Medical Center RCV000210893 SCV000264598 likely benign Ehlers-Danlos syndrome, type 4 2015-12-01 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178514 SCV000538716 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (46/8636) East Asian; ClinVar: 1 VUS, 1 LB; Path for nonsense at same codon
Invitae RCV000587574 SCV000554708 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000178514 SCV000603142 uncertain significance not specified 2017-01-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587574 SCV000695369 benign not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.3133G>A (p.Ala1045Thr) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a damaging outcome. However, these predictions have yet to be functionally assessed. This variant was found in 71/121484 control chromosomes at a frequency of 0.0005844, which is approximately 468 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000619852 SCV000738508 uncertain significance Cardiovascular phenotype 2017-02-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Human Genetics, Inc RCV000659428 SCV000781242 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000776192 SCV000911321 benign Thoracic aortic aneurysm and aortic dissection 2018-10-09 criteria provided, single submitter clinical testing

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