Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000692299 | SCV000820113 | uncertain significance | Severe combined immunodeficiency due to LCK deficiency | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 284 of the LCK protein (p.Ala284Gly). This variant is present in population databases (rs142611772, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with LCK-related conditions. ClinVar contains an entry for this variant (Variation ID: 571219). 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. 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. |
Baylor Genetics | RCV000692299 | SCV001525126 | uncertain significance | Severe combined immunodeficiency due to LCK deficiency | 2019-11-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |