ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)

gnomAD frequency: 0.00005  dbSNP: rs768913997
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502299 SCV000596157 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056860 SCV002368990 likely benign Lowe syndrome 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023389 SCV003744259 likely benign Nephrolithiasis/nephrocalcinosis 2022-02-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003992307 SCV004811712 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing OCRL: BS2
PreventionGenetics, part of Exact Sciences RCV004752922 SCV005348178 uncertain significance OCRL-related disorder 2024-09-24 no assertion criteria provided clinical testing The OCRL c.50G>C variant is predicted to result in the amino acid substitution p.Gly17Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0061% of alleles in individuals of European (non-Finnish) descent in gnomAD, including 3 hemizygotes. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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