ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)

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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 RCV002660479 SCV003529485 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.517G>A (p.G173S) alteration is located in exon 5 (coding exon 4) of the PIK3R2 gene. This alteration results from a G to A substitution at nucleotide position 517, causing the glycine (G) at amino acid position 173 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099473 SCV005819978 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-08-02 criteria provided, single submitter clinical testing

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