Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778180 | SCV000914344 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2017-10-26 | criteria provided, single submitter | clinical testing | The PLOD1 c.622C>T (p.Gln208Ter) variant is a stop-gained varant predicted to result in premature termination of the protein. The p.Gln208Ter variant has been reported in one study in which it is found in a homozygous state in two siblings who presented with multiple phenotypes including severe muscular hypotonia, back deformity, kyphoscoliosis, pectus excavatum, and adducted thumbs. Both unaffected parents were heterozygous carriers of the variant (Abdalla et al. 2015). Control data are unavailable for the p.Gln208Ter variant which is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence and the potential impact of stop-gained variants, the p.Gln208Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for the kyphoscoliotic form of Ehlers-Danlos syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |