ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)

gnomAD frequency: 0.00050  dbSNP: rs34781844
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000771758 SCV000317312 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-05-15 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.
Illumina Laboratory Services, Illumina RCV000384960 SCV000425544 likely benign Ehlers-Danlos syndrome, type 4 2018-08-17 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000384960 SCV000554700 benign Ehlers-Danlos syndrome, type 4 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771758 SCV000904416 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858537 SCV001153234 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing COL3A1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000858537 SCV001472106 benign not provided 2019-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000858537 SCV001942827 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278225 SCV002565643 likely benign Ehlers-Danlos syndrome 2019-05-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000384960 SCV004827591 likely benign Ehlers-Danlos syndrome, type 4 2024-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000858537 SCV001807830 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000858537 SCV001973654 likely benign not provided no assertion criteria provided clinical testing

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