ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)

gnomAD frequency: 0.00091  dbSNP: rs149359927
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767151 SCV000535940 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Genetic Services Laboratory, University of Chicago RCV000426413 SCV000597988 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000767151 SCV001559366 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418337 SCV002724450 likely benign Dyskeratosis congenita 2021-10-21 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.
PreventionGenetics, part of Exact Sciences RCV003942461 SCV004765751 likely benign WRAP53-related disorder 2022-04-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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