ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.594-10dup

dbSNP: rs755566588
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728741 SCV000856350 likely benign not specified 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001675962 SCV001895274 benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000728741 SCV002066394 benign not specified 2017-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352240 SCV002650054 uncertain significance Inborn genetic diseases 2015-10-12 criteria provided, single submitter clinical testing This variant, c.594-4dupT variant is located in intron 7 of the RPS6KA3 gene. This results in the insertion of an extra T residue between the 3rd and 4th nucleotides before exon 8. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. Using the BDGP and ESEfinder splice site prediction tools, this alteration does not have any significant effect on this acceptor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002535090 SCV003256859 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2024-12-24 criteria provided, single submitter clinical testing

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