ClinVar Miner

Submissions for variant NM_002645.4(PIK3C2A):c.1475A>G (p.His492Arg)

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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 RCV002608354 SCV002939633 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing 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. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with PIK3C2A-related conditions. This variant is present in population databases (rs748870045, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 492 of the PIK3C2A protein (p.His492Arg).
Ambry Genetics RCV004065602 SCV005004029 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing The c.1475A>G (p.H492R) alteration is located in exon 5 (coding exon 5) of the PIK3C2A gene. This alteration results from a A to G substitution at nucleotide position 1475, causing the histidine (H) at amino acid position 492 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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