ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)

gnomAD frequency: 0.00044  dbSNP: rs145508748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103838 SCV000885988 uncertain significance Bone fragility with contractures, arterial rupture, and deafness 2022-03-02 criteria provided, single submitter clinical testing The PLOD3 c.1466C>T; p.Pro489Leu variant is not reported in the medical literature, in the ClinVar database, or in gene-specific databases. The variant is listed in the dbSNP variant database (rs145508748), in the Exome Variant Server with an allele frequency of 0.0308 percent (4/13002 alleles), and in the Genome Aggregation Database with an allele frequency of 0.05161 percent (143/277082 alleles, 3 homozygotes). The proline at this position is conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, the clinical significance of this variant cannot be determined with certainty.
CeGaT Center for Human Genetics Tuebingen RCV000757677 SCV000892794 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000757677 SCV002402430 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Neurovascular Genetics Laboratory, Assistance Publique - Hôpitaux de Paris RCV002273826 SCV002558786 uncertain significance Hemorrhage, intracerebral, susceptibility to 2022-08-05 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004547949 SCV004737758 likely benign PLOD3-related disorder 2023-07-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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