Submissions for variant NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)

gnomAD frequency: 0.00056  dbSNP: rs146270553

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001144772	SCV001305387	uncertain significance	Gray platelet syndrome	2017-04-27	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago	RCV001819848	SCV002071044	uncertain significance	not specified	2018-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002557092	SCV003588728	uncertain significance	Inborn genetic diseases	2021-10-12	criteria provided, single submitter	clinical testing	The c.6352G>A (p.V2118I) alteration is located in exon 39 (coding exon 39) of the NBEAL2 gene. This alteration results from a G to A substitution at nucleotide position 6352, causing the valine (V) at amino acid position 2118 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003938502	SCV004749963	likely benign	NBEAL2-related disorder	2022-04-14	no assertion criteria provided	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).