ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) (rs80044281)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000358776 SCV000389301 likely pathogenic SPATA7-Related Disorders 2017-04-28 criteria provided, single submitter clinical testing The SPATA7 c.322C>T (p.Arg108Ter) variant is stop-gained variant predicted to result in premature termination of the protein. The p.Arg108Ter variant has been reported in four studies in which it was identified in a total of seven patients with Leber congenital amaurosis, including four homozygotes and one compound heterozygote, and two compound heterozygotes with autosomal recessive retinitis pigmentosa (Wang et al. 2009; Perrault et al. 2010; Neveling et al. 2012; Xu et al. 2014). The variant was also found in a heterozygous state in six unaffected family members of patients. The variant was absent from at least 150 control individuals but is reported at a frequency of 0.00005 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence, the p.Arg108Ter variant is classified as pathogenic for SPATA7-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000001460 SCV000021615 pathogenic Leber congenital amaurosis 3 2009-03-01 no assertion criteria provided literature only
GeneReviews RCV000001460 SCV000086979 pathologic Leber congenital amaurosis 3 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000001460 SCV001432529 pathogenic Leber congenital amaurosis 3 no assertion criteria provided research

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