ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) (rs147967974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302693 SCV000478747 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000489191 SCV000577458 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the INPP5E gene. The P577R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P577R variant is observed in 25/9198 (0.3%) alleles from individuals of European background, including one homozygous individual (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved, and Arginine is observed at this position in evolution. However, the P577R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000489191 SCV001000685 benign not provided 2018-10-17 criteria provided, single submitter clinical testing

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