Submissions for variant NM_005356.5(LCK):c.504G>A (p.Arg168=)

gnomAD frequency: 0.00002  dbSNP: rs764228746

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001991509	SCV002282095	uncertain significance	Severe combined immunodeficiency due to LCK deficiency	2021-08-20	criteria provided, single submitter	clinical testing	This sequence change affects codon 168 of the LCK mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LCK protein. This variant is present in population databases (rs764228746, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with LCK-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences	RCV003958461	SCV004776325	likely benign	LCK-related disorder	2023-11-07	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).