ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)

gnomAD frequency: 0.00004  dbSNP: rs760482912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176571 SCV001340594 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558824 SCV003452519 uncertain significance Ehlers-Danlos syndrome, type 4 2022-10-02 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL3A1 protein function. ClinVar contains an entry for this variant (Variation ID: 918785). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is present in population databases (rs760482912, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 29 of the COL3A1 protein (p.Glu29Asp).
All of Us Research Program, National Institutes of Health RCV002558824 SCV004822977 likely benign Ehlers-Danlos syndrome, type 4 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV004777980 SCV005392141 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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