Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667295 | SCV000791725 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780316 | SCV000917483 | pathogenic | Mucolipidosis | 2017-09-08 | criteria provided, single submitter | clinical testing | Variant summary: The GNPTAB c.3091C>T (p.Arg1031X) 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 our laboratory (e.g. c.3410T>A (p.Leu1137X) and c.3503_3504delTC (p.Leu1168fsX5)). This variant was found in 1/246136 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic GNPTAB variant (0.0022361). Multiple publications have cited the variant in compound heterozygote ML2 individuals. A reputable database, GeneReviews, classifies the variant as "pathogenic." Taken together, this variant is classified as pathogenic. |
Labcorp Genetics |
RCV000667295 | SCV001372673 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1031*) 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 (rs281865009, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with mucolipidosis II (PMID: 19617216, 23227064, 29872134). ClinVar contains an entry for this variant (Variation ID: 39065). 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. |
MGZ Medical Genetics Center | RCV002288528 | SCV002581837 | pathogenic | Pseudo-Hurler polydystrophy | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032330 | SCV000055975 | not provided | Mucolipidosis type II | no assertion provided | literature only | ||
Natera, |
RCV000032330 | SCV001457941 | pathogenic | Mucolipidosis type II | 2020-09-16 | no assertion criteria provided | clinical testing |