ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.224G>A (p.Arg75Lys)

dbSNP: rs1553428545
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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 RCV000533230 SCV000655354 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2025-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 75 of the AKT3 protein (p.Arg75Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of AKT3-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 475213). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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