ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.415del (p.Arg139fs)

dbSNP: rs1640237880
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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 RCV001342141 SCV001536052 pathogenic Severe combined immunodeficiency due to LCK deficiency 2022-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1038789). This variant has not been reported in the literature in individuals affected with LCK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg139Glyfs*40) in the LCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LCK are known to be pathogenic (PMID: 22985903, 27087313).

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