ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)

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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 RCV002698659 SCV003730243 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.1522C>T (p.R508C) alteration is located in exon 12 (coding exon 11) of the PIK3R2 gene. This alteration results from a C to T substitution at nucleotide position 1522, causing the arginine (R) at amino acid position 508 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534980 SCV004268526 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-12-09 criteria provided, single submitter clinical testing

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