ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) (rs138490756)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246712 SCV000303545 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244614 SCV000319413 benign Cardiovascular phenotype 2015-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288518 SCV000347876 uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415917 SCV000493164 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000246712 SCV000589408 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000415917 SCV000631698 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246712 SCV000703499 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000288518 SCV000898886 uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-08-16 criteria provided, single submitter clinical testing PLOD1 NM_000302.3 exon 14 p.Arg512Cys (c.1534C>T): This variant has not been reported in the literature, but it is present in 0.5% (653/126532) of European alleles, including one homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-12025600-C-T). This variant is present in ClinVar, with several labs classifying this variant as likely benign (Variation ID: 255801). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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