ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)

gnomAD frequency: 0.00001  dbSNP: rs1224538282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680071 SCV000807511 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in trans with a pathogenic variant in a 4-year-old female with tall habitus, hyperextensibility, hip dysplasia, mild scoliosis, lumbar kyphosis, arachnodactyly, fragile connective tissue, motor delays, hypotonia, dysmorphisms, tethered cord, eye anomalies
Invitae RCV000680071 SCV001406746 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln327*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Ehlers-Danlos syndrome, kyphoscoliotic form (PMID: 10874315). ClinVar contains an entry for this variant (Variation ID: 561087). For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000680071 SCV002061743 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-11-22 criteria provided, single submitter clinical testing PVS1, PM3_Supporting, PM2
GeneDx RCV003233809 SCV003930968 pathogenic not provided 2023-06-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 10874315, 25326635, 27535533)

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