ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.560A>G (p.Asp187Gly)

gnomAD frequency: 0.00003  dbSNP: rs767406314
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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 RCV001339242 SCV001532972 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2020-01-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs767406314, ExAC 0.001%). 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. 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. This variant has not been reported in the literature in individuals with LCK-related conditions. This sequence change replaces aspartic acid with glycine at codon 187 of the LCK protein (p.Asp187Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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