ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.402del (p.Asp135fs)

dbSNP: rs886043926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000290872 SCV000342658 pathogenic not provided 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV003629111 SCV004486671 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2023-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 288527). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp135Thrfs*92) in the PLOD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLOD1 are known to be pathogenic (PMID: 10874315, 21699693).

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