ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1761+6T>C

gnomAD frequency: 0.00001  dbSNP: rs189483688
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695406 SCV000823903 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-24 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs189483688, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 573680). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001187143 SCV001353835 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-12 criteria provided, single submitter clinical testing This variant is located in the intron 24 splice donor region of the COL3A1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 18/250454 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV001756203 SCV001997537 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002499245 SCV002812168 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001187143 SCV003715078 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-18 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.
Baylor Genetics RCV003147533 SCV003834957 uncertain significance Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-03-25 criteria provided, single submitter clinical testing

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