Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852635 | SCV002235998 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2021-11-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 38412). Disruption of this splice site has been observed in individuals with clincial features of mucolipidosis II (PMID: 16630736, 27662472). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the GNPTAB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). |
Revvity Omics, |
RCV003137548 | SCV003828658 | likely pathogenic | not provided | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000031966 | SCV000054658 | pathologic | Mucolipidosis type II | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |