ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)

gnomAD frequency: 0.00336  dbSNP: rs56338023
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192611 SCV000248736 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315497 SCV000847686 benign Inborn genetic diseases 2016-08-26 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) RCV000192611 SCV000858979 benign not specified 2018-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865483 SCV001006460 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001711500 SCV001940292 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000865483 SCV002807675 likely benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2021-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711500 SCV005274475 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004553056 SCV004798343 benign RPS6KA3-related disorder 2021-10-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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