ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914310 SCV003258569 pathogenic Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RPS6KA3 protein function. This missense change has been observed in individual(s) with Coffin-Lowry syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 605 of the RPS6KA3 protein (p.Gly605Asp).

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