ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2521A>G (p.Ile841Val)

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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 RCV005387311 SCV006045648 uncertain significance Inborn genetic diseases 2024-12-30 criteria provided, single submitter clinical testing The c.2521A>G (p.I841V) alteration is located in exon 18 (coding exon 17) of the PIK3CA gene. This alteration results from an A to G substitution at nucleotide position 2521, causing the isoleucine (I) at amino acid position 841 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004736870 SCV005345698 likely pathogenic PIK3CA-related disorder 2024-06-08 no assertion criteria provided clinical testing The PIK3CA c.2521A>G variant is predicted to result in the amino acid substitution p.Ile841Val. This variant was reported as de novo in two individuals with developmental disorder or autism (Table S1, Kaplanis et al. 2020. PubMed ID: 33057194; Table S3, Zhou et al. 2022. PubMed ID: 35982159). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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