ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)

gnomAD frequency: 0.00001  dbSNP: rs137853831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000059576 SCV001934370 likely pathogenic Lowe syndrome 2020-12-11 criteria provided, single submitter clinical testing This variant was identified as hemizygous.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488373 SCV004241538 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing Variant summary: OCRL c.1009C>T (p.Arg337Cys) results in a non-conservative amino acid change located in the Inositol polyphosphate-related phosphatase (IPR000300) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.5e-06 in 183438 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1009C>T has been reported in the literature in an individual affected with Lowe Disease (example: Hichri_2011). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 10%-<30% of normal activity (example: Hichri_2011). The following publication has been ascertained in the context of this evaluation (PMID: 21031565). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
UniProtKB/Swiss-Prot RCV000059576 SCV000091108 not provided Lowe syndrome no assertion provided not provided

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