Total submissions: 6
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. |
Gene |
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, |
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, |
RCV000000097 | SCV002091344 | pathogenic | Lysosomal acid lipase deficiency | 2020-05-28 | no assertion criteria provided | clinical testing |