ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.632A>T (p.Asn211Ile)

gnomAD frequency: 0.00004  dbSNP: rs766580359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689981 SCV000817654 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 211 of the LCK protein (p.Asn211Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs766580359, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with LCK-related conditions. 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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