ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)

gnomAD frequency: 0.00170  dbSNP: rs143538947
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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 RCV000192954 SCV000249371 uncertain significance not specified 2015-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544499 SCV000646226 benign Syndromic X-linked intellectual disability 14 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000192954 SCV000730461 benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002315517 SCV000848570 benign Inborn genetic diseases 2016-12-23 criteria provided, single submitter clinical testing This alteration is classified as 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.
Eurofins Ntd Llc (ga) RCV000192954 SCV000856685 benign not specified 2017-09-14 criteria provided, single submitter clinical testing

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