ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln)

dbSNP: rs2153504073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002016934 SCV002298978 uncertain significance Ehlers-Danlos syndrome, type 4 2021-05-04 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. This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with glutamine at codon 1178 of the COL3A1 protein (p.Pro1178Gln). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and glutamine.

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