Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174596 | SCV000225918 | pathogenic | not provided | 2014-05-20 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669334 | SCV000794078 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174596 | SCV001169045 | pathogenic | not provided | 2019-01-24 | criteria provided, single submitter | clinical testing | The c.1906dupA variant in the GNPTAB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, it is reported as pathogenic or likely pathogenic in ClinVar by different clinical laboratories, but additional evidence is not available (ClinVar SCV000225918.3, SCV000794078.1; Landrum et al., 2016). The c.1906dupA variant causes a frameshift starting with codon Arginine 636, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Arg636LysfsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1906dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1906dupA as a pathogenic variant. |
Invitae | RCV000669334 | SCV001588692 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg636Lysfs*19) 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 (rs747789493, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with mucolipidosis (PMID: 30882951). ClinVar contains an entry for this variant (Variation ID: 194265). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000174596 | SCV003828636 | likely pathogenic | not provided | 2022-06-21 | criteria provided, single submitter | clinical testing |