ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)

dbSNP: rs922997919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793656 SCV000933020 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2018-08-02 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 445 of the PLOD1 protein (p.Val445Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLOD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573412 SCV001799264 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573412 SCV001930712 uncertain significance not provided no assertion criteria provided clinical testing

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