ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)

dbSNP: rs745409628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311073 SCV000319825 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2015-06-24 criteria provided, single submitter clinical testing The c.404_423del20 variant, located in coding exon 4 of the PLOD1 gene, results from a deletion of 20 nucleotides between positions 404 and 423, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
GeneDx RCV000498828 SCV000590212 pathogenic not provided 2022-01-25 criteria provided, single submitter clinical testing Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001387123 SCV001587663 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp135Valfs*75) 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 present in population databases (rs745409628, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 264119). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001387123 SCV005638779 likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-06-11 criteria provided, single submitter clinical testing

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