Submissions for variant NM_002296.4(LBR):c.995C>T (p.Ala332Val)

gnomAD frequency: 0.00293  dbSNP: rs141647564

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000712173	SCV000842603	benign	not provided	2018-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712173	SCV001108995	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000322	SCV001157018	uncertain significance	not specified	2018-09-19	criteria provided, single submitter	clinical testing	The LBR c.995C>T; p.Ala332Val variant (rs141647564), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the African population at an overall frequency of 1.1% (261/24014 alleles, 3 homozygotes) in the Genome Aggregation Database. The alanine at codon 332 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
GeneDx	RCV000712173	SCV001805012	likely benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV004544958	SCV004788259	benign	LBR-related disorder	2019-03-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).