ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser)

dbSNP: rs2153504076
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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 RCV002011999 SCV002219141 uncertain significance Ehlers-Danlos syndrome, type 4 2021-02-24 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 serine at codon 1187 of the COL3A1 protein (p.Pro1187Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
All of Us Research Program, National Institutes of Health RCV002011999 SCV004833497 uncertain significance Ehlers-Danlos syndrome, type 4 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 1187 of the COL3A1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). 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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