ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro)

gnomAD frequency: 0.00001  dbSNP: rs920139065
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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 RCV001071232 SCV001236524 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554621 SCV003622567 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.380T>C (p.L127P) alteration is located in exon 3 (coding exon 2) of the PIK3R2 gene. This alteration results from a T to C substitution at nucleotide position 380, causing the leucine (L) at amino acid position 127 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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