ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) (rs121913554)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015440 SCV001410212 likely pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient 2019-08-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PLOD1 gene (p.Arg670*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acids of the PLOD1 protein. This variant is present in population databases (rs121913554, ExAC 0.003%). This variant has been observed in individual(s) with Ehlers-Danlos syndrome, kyphoscoliotic form (PMID: 10874315). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 14373). This variant disrupts the C-terminus of the PLOD1 protein. Other variant(s) that disrupt this region (p.Arg690*) have been observed in individuals with PLOD1-related conditions (Invitae). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000015440 SCV000035705 pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-12-21 no assertion criteria provided literature only

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