Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002654679 | SCV003521548 | pathogenic | Mucolipidosis type IV | 2022-12-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln278*) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of mucolipidosis (PMID: 28604674). This variant is not present in population databases (gnomAD no frequency). |