ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)

gnomAD frequency: 0.00003  dbSNP: rs773807871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946028 SCV001092114 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001759672 SCV001987135 benign not provided 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354842 SCV002649940 likely benign Inborn genetic diseases 2019-09-19 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 RCV004553385 SCV004720368 likely benign RPS6KA3-related disorder 2023-11-01 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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