ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.896G>A (p.Arg299Gln)

gnomAD frequency: 0.00001  dbSNP: rs750936420
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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 RCV000819496 SCV000960160 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2018-11-13 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with LCK-related disease. This variant is present in population databases (rs750936420, ExAC 0.003%). This sequence change replaces arginine with glutamine at codon 299 of the LCK protein (p.Arg299Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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