ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.477del (p.Ala160fs)

dbSNP: rs2124355238
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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 RCV001943020 SCV002186410 pathogenic Severe combined immunodeficiency due to LCK deficiency 2021-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala160Argfs*19) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with LCK-related conditions. For these reasons, this variant has been classified as Pathogenic.

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