ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.1527_*6TTGAGAGGCC[1] (p.Pro509_Ter(510_?)(?))

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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 RCV002612443 SCV003514151 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2022-08-31 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the LCK gene. It does not change the encoded amino acid sequence of the LCK protein. This variant is present in population databases (rs776873810, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LCK-related conditions. 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.

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