ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)

dbSNP: rs797045094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190602 SCV000245630 pathogenic Lysosomal acid lipase deficiency 2015-02-25 criteria provided, single submitter clinical testing The p.Gln85X variant in LIPA has not been previously reported in individuals with lysosomal acid lipase deficiency (LALD) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 85 which is predicted to lead to a truncated or absent protein. Complete loss of LIPA function is an established disease mechanism in LALD. In summary, this variant meets our criteria to be classified as pathogenic LALD in an autosomal recessive manner.

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