ClinVar Miner

Submissions for variant NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) (rs200311463)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779093 SCV000915582 likely pathogenic PDE6H-Related Disorders 2018-08-23 criteria provided, single submitter clinical testing The PDE6H c.35C>G (p.Ser12Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Ser12Ter variant has been reported in two studies and is found in a homozygous state in five probands from three families including two sibling pairs (Kohl et al. 2012; Pedurupillay et al. 2016). Three of the probands are diagnosed with incomplete achromatopsia and two with cone dystrophy. The unaffected parents of the siblings were confirmed heterozygotes for the p.Ser12Ter variant. The p.Ser12Ter variant was absent from 180 control subjects and is reported at a frequency of 0.000166 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the potential impact of stop-gained variants and evidence from the literature, the p.Ser12Ter variant is classified as likely pathogenic for PDE6H-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092385 SCV001248872 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
OMIM RCV000030807 SCV000053478 pathogenic Achromatopsia 6 2012-09-07 no assertion criteria provided literature only
GeneReviews RCV000055928 SCV000086940 pathologic Retinal cone dystrophy 3A 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Medical Genetics,Oslo University Hospital RCV000055928 SCV000256082 pathogenic Retinal cone dystrophy 3A 2015-10-27 no assertion criteria provided research

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