Submissions for variant NM_001715.3(BLK):c.391C>T (p.Arg131Trp)

dbSNP: rs73663163

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001164841	SCV001326992	likely benign	Maturity-onset diabetes of the young type 11	2017-07-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001796205	SCV002147865	uncertain significance	not provided	2022-10-07	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects BLK function (PMID: 31101814). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 619201). This missense change has been observed in individual(s) with clinical features of autoimmune disorder (PMID: 31101814). This variant is present in population databases (rs73663163, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 131 of the BLK protein (p.Arg131Trp).
Mendelics	RCV002249456	SCV002518090	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001796205	SCV005041517	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	BLK: BS1
Carola Vinuesa Lab, John Curtin School of Medical Research	RCV000758181	SCV000886646	pathogenic	Systemic lupus erythematosus		no assertion criteria provided	research
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001796205	SCV002035309	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796205	SCV002037962	uncertain significance	not provided		no assertion criteria provided	clinical testing