ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.1501A>C (p.Thr501Pro)

dbSNP: rs1640594194
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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 RCV001337695 SCV001531305 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2020-08-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 501 of the LCK protein (p.Thr501Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LCK-related conditions. This variant is not present in population databases (ExAC no frequency).

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