ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)

gnomAD frequency: 0.00001  dbSNP: rs751967235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009874 SCV002261302 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 483 of the AAAS protein (p.Pro483Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs751967235, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with AAAS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484911 SCV002783713 uncertain significance Glucocorticoid deficiency with achalasia 2022-01-05 criteria provided, single submitter clinical testing

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