Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590274 | SCV000699484 | likely pathogenic | Mucolipidosis type II | 2016-01-05 | criteria provided, single submitter | clinical testing | Variant summary: This c.99delC variant causes a frameshift, which alters the proteins amino acid sequence beginning at position 34 and leads to a premature termination codon 48 amino acid downstream. It is predicted to cause a truncated or absent protein product. Mutation taster predicts this variant to be disease-causing. The variant was not observed in the large and broad cohorts of the ExAC project or ESP. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, clinical laboratories, or databases; nor evaluated for functional impact by in vivo/vitro studies. Truncations downstream of this position have been listed as disease variants by HGMD and ClinVar (e.g. Gln104Term, Gln278Term, etc). Considering all, this variant has been classified as Likely Pathogenic until additional information becomes available. |
Invitae | RCV000669032 | SCV000954383 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala34Profs*49) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Mucolipidosis type II (PMID: 27662472, 29872134). ClinVar contains an entry for this variant (Variation ID: 496456). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000983985 | SCV000793730 | likely pathogenic | Pseudo-Hurler polydystrophy | 2017-08-29 | no assertion criteria provided | clinical testing |