ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)

dbSNP: rs751582616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001290354 SCV001478400 pathogenic Vascular Malformations and Overgrowth 2020-11-08 no assertion criteria provided research This alteration is of apparent somatic mosaic etiology with strong supporting evidence including no discernible strand bias, in a region absent of repetition and sequence homology, with clean, high-quality reads, having a variant allele fraction >= 3% [PS2], is supported by well-established models demonstrating downstream impact of the variant on RNA structure, gene expression, or protein function [PS3], is either well-represented in cancer as identified in the COSMIC database with >=20 documented instances or considered to occur in a statistically significant hotspot or region according to database [PM_CANCER], and is in a non-repetitive region and results in a protein length change predicted to result in an in-frame protein product [PM4].
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School RCV002221158 SCV002498580 likely pathogenic CLOVES syndrome 2022-01-16 no assertion criteria provided clinical testing

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