ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter) (rs1554671322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578909 SCV000681318 uncertain significance not provided 2018-01-17 criteria provided, single submitter clinical testing The R999X variant in the TOPORS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R999X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R999X as a variant of uncertain significance, which may be related to the visual impairment reported in this individual.
GenomeConnect, ClinGen RCV000844940 SCV000986758 not provided Retinitis pigmentosa 31 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/22/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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