ClinVar Miner

Submissions for variant NM_002645.4(PIK3C2A):c.2470G>C (p.Val824Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004175837 SCV003667008 uncertain significance not specified 2022-12-16 criteria provided, single submitter clinical testing The c.2470G>C (p.V824L) alteration is located in exon 13 (coding exon 13) of the PIK3C2A gene. This alteration results from a G to C substitution at nucleotide position 2470, causing the valine (V) at amino acid position 824 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777978 SCV004685422 uncertain significance not provided 2024-09-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 824 of the PIK3C2A protein (p.Val824Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PIK3C2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2336111). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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