ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu)

dbSNP: rs1553510005
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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 RCV000634715 SCV000756052 uncertain significance Ehlers-Danlos syndrome, type 4 2017-11-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). This variant has been reported in the literature in an individual affected with COL3A1-related disease (PMID: 25846194). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1440 of the COL3A1 protein (p.Pro1440Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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