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

dbSNP: rs751582616

Total submissions: 2

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 cancerhotspots.org 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