ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)

gnomAD frequency: 0.00004  dbSNP: rs267607218
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000097 SCV000789817 pathogenic Lysosomal acid lipase deficiency 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV001376562 SCV001405024 pathogenic Wolman disease 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly266*) in the LIPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). This variant is present in population databases (rs267607218, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with lysosomal acid lipase (LAL) deficiency (PMID: 28881270, 30684275). ClinVar contains an entry for this variant (Variation ID: 78). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001562238 SCV001784974 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing Published functional studies found this variant is associated with reduced lysosomal acid lipase activity (Vinje T et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 23928541, 28881270, 29196158, 26252914, 22227072, 30684275, 8617513, 33857477, 8254026)
Revvity Omics, Revvity RCV001562238 SCV003820984 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing
OMIM RCV001804146 SCV000020240 pathogenic Cholesteryl ester storage disease 1996-04-01 no assertion criteria provided literature only
Natera, Inc. RCV000000097 SCV002091344 pathogenic Lysosomal acid lipase deficiency 2020-05-28 no assertion criteria provided clinical testing

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