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
Labcorp Genetics (formerly Invitae), Labcorp RCV000680071 SCV001406746 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-06-12 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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