ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803703 SCV000943586 pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln339*) in the PLOD1 gene. It is expected to result in an absent or disrupted protein product. 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 conditions. Loss-of-function variants in PLOD1 are known to be pathogenic (PMID: 10874315, 21699693). For these reasons, this variant has been classified as Pathogenic.

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