ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)

gnomAD frequency: 0.00011  dbSNP: rs144614075
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725829 SCV000233388 uncertain significance not provided 2023-12-23 criteria provided, single submitter clinical testing Identified in individuals with arterial dissection and/or aneurysm in the published literature and classified as a variant of uncertain significance (PMID: 26854089, 25758994, 20825986); Identified in a proband with spontaneous iliac artery dissection in the published literature, but the variant did not segregate with disease in this family; a second cardiogenetic variant in the COL1A1 gene was identified in the proband that segregated with disease and was classified by the authors as pathogenic (PMID: 31531849); Identified in a patient with Marfan syndrome who also harbored a likely pathogenic variant in the FBN1 gene (PMID: 30087447); Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(K1106R); This variant is associated with the following publications: (PMID: 29590070, 25758994, 20825986, 31531849, 26854089, 30087447)
Labcorp Genetics (formerly Invitae), Labcorp RCV001087510 SCV000262437 likely benign Ehlers-Danlos syndrome, type 4 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771822 SCV000319224 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-17 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.
Eurofins Ntd Llc (ga) RCV000725829 SCV000339677 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000515270 SCV000611385 uncertain significance Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 2017-05-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771822 SCV000904527 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001087510 SCV001299204 benign Ehlers-Danlos syndrome, type 4 2017-04-28 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.
Johns Hopkins Genomics, Johns Hopkins University RCV000725829 SCV001762374 likely benign not provided 2021-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725829 SCV002048320 likely benign not provided 2021-11-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771822 SCV003838691 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-01 criteria provided, single submitter clinical testing

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