Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001062193 | SCV001226975 | pathogenic | not provided | 2022-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects GNPTG function (PMID: 27038293). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 2799). This missense change has been observed in individual(s) with mucolipidosis III (PMID: 15060128, 19370764). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs137852885, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 106 of the GNPTG protein (p.Gly106Ser). |
| Fulgent Genetics, |
RCV000002933 | SCV002788753 | likely pathogenic | GNPTG-mucolipidosis | 2021-08-06 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000002933 | SCV000023091 | pathogenic | GNPTG-mucolipidosis | 2009-06-01 | no assertion criteria provided | literature only | |
| Gene |
RCV000002933 | SCV000041524 | not provided | GNPTG-mucolipidosis | no assertion provided | literature only |