ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)

dbSNP: rs1645711960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041012 SCV001204606 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with tryptophan at codon 188 of the PLOD1 protein (p.Leu188Trp). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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