ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala)

dbSNP: rs35795890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688885 SCV000816512 uncertain significance Ehlers-Danlos syndrome, type 4 2023-05-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 568504). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 602 of the COL3A1 protein (p.Pro602Ala). 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. 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.
All of Us Research Program, National Institutes of Health RCV000688885 SCV004838459 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 602 of the COL3A1 protein. Computational prediction indicates that this variant may have a neutral impact on protein structure and function. 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 not been identified 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.

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