Submissions for variant NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)

gnomAD frequency: 0.00068  dbSNP: rs138783302

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001002216	SCV000639915	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002216	SCV001160090	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2018-11-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001002216	SCV001331583	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263772	SCV002543207	uncertain significance	Autoinflammatory syndrome	2022-03-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942798	SCV004772746	likely benign	XIAP-related disorder	2022-08-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706666	SCV001927752	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706666	SCV001971630	likely benign	not provided		no assertion criteria provided	clinical testing