ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.100G>C (p.Gly34Arg)

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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 RCV002298327 SCV002597980 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1720609). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 affected with LCK-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 34 of the LCK protein (p.Gly34Arg). This variant is present in population databases (rs770282584, gnomAD 0.0009%).

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