ClinVar Miner

Submissions for variant NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) (rs760766981)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427120 SCV000514085 likely pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing The L527P variant in the PDE6B gene has been reported previously in association with autosomal recessive retinitis pigmentosa (McLaughlin et al., 1995; Carss et al., 2017). The L527P variant is observed in 16/111,416 (0.0144%) alleles from individuals of non-Finnish European background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The L527P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret L527P as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000845026 SCV000986861 not provided Retinitis pigmentosa 40 no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 08/20/2018 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.
Illumina Clinical Services Laboratory,Illumina RCV000504854 SCV000916071 uncertain significance Retinitis pigmentosa 2018-11-14 criteria provided, single submitter clinical testing The PDE6B c.1580T>C (p.Leu527Pro) missense variant has been reported in a compound heterozygous state in three individuals, including a sibling pair, with retinitis pigmentosa (McLaughlin et al. 1995; Carss et al. 2017). Control data are unavailable for this variant, which is reported at a frequency of 0.00015 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Leu527Pro variant is classified as a variant of unknown significance but suspicious for pathogenicity for the recessive form of retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
NIHR Bioresource Rare Diseases,University of Cambridge RCV000504854 SCV000599139 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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