Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671157 | SCV000796107 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671157 | SCV002224452 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn859Glnfs*2) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). This variant is present in population databases (rs281865029, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with mucolipdosis III alpha (PMID: 16116615). This variant is also known as c.2574_2575delGA (p.E858fsX3). ClinVar contains an entry for this variant (Variation ID: 2769). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000031974 | SCV000023055 | pathogenic | Pseudo-Hurler polydystrophy | 2005-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000031974 | SCV000054668 | pathologic | Pseudo-Hurler polydystrophy | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |