ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.785G>C (p.Gly262Ala)

dbSNP: rs2124359006
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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 RCV001984012 SCV002286654 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2021-09-26 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with LCK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 262 of the LCK protein (p.Gly262Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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