Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000032337 | SCV000699481 | pathogenic | Mucolipidosis type II | 2016-07-08 | criteria provided, single submitter | clinical testing | Variant summary: The GNPTAB c.3410T>A (p.Leu1137X) variant results in a premature termination codon, predicted to cause a truncated or absent GNPTAB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by reputable sources (e.g.c.3565C>T/p.Arg1189Ter, c.3613C>T/p.Arg1205Ter). One in silico tool predicts a damaging outcome for this variant. This variant has been reported in at least two ML II patients and was found in 2/120516 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic GNPTAB variant (0.0022361). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV001044478 | SCV001208277 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-08-11 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with mucolipidosis II (PMID: 19617216). This sequence change creates a premature translational stop signal (p.Leu1137*) 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 (rs142065232, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 39071). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003137550 | SCV003828647 | likely pathogenic | not provided | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032337 | SCV000055982 | not provided | Mucolipidosis type II | no assertion provided | literature only | ||
Counsyl | RCV000983987 | SCV000797058 | likely pathogenic | Pseudo-Hurler polydystrophy | 2018-01-10 | no assertion criteria provided | clinical testing |