ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met)

gnomAD frequency: 0.00002  dbSNP: rs377406897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479022 SCV000570270 likely pathogenic not provided 2021-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV002525859 SCV003484210 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 705 of the PLOD1 protein (p.Thr705Met). This variant is present in population databases (rs377406897, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 421155). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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