ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2822C>T (p.Pro941Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003481671 SCV004225954 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV005100290 SCV005834497 uncertain significance Ehlers-Danlos syndrome, type 4 2024-03-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 941 of the COL3A1 protein (p.Pro941Leu). This variant is present in population databases (rs747784033, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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