Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000498354 | SCV000331818 | pathogenic | not provided | 2016-08-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000498354 | SCV000589341 | pathogenic | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | The R102X pathogenic variant in the MCOLN1 gene has been reported previously in an individual with mucolipidosis type IV who also possessed a second variant in the MCOLN1 gene (Sun et al., 2001). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R102X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R102X as a pathogenic variant. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000005443 | SCV000699454 | pathogenic | Mucolipidosis type IV | 2017-06-23 | criteria provided, single submitter | clinical testing | Variant summary: The MCOLN1 c.304C>T (p.Arg102X) variant results in a premature termination codon, predicted to cause a truncated or absent MCOLN1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position have been classified as pathogenic by our laboratory , c.1615delG (p.Ala539fsX41). This variant was found in 6/121384 control chromosomes at a frequency of 0.0000494, which does not exceed the estimated maximal expected allele frequency of a pathogenic MCOLN1 variant (0.0030619). A publication cites this variant in an affected compound heterozygote individual. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV000005443 | SCV001395086 | pathogenic | Mucolipidosis type IV | 2023-09-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg102*) 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. ClinVar contains an entry for this variant (Variation ID: 5136). This premature translational stop signal has been observed in individual(s) with mucolipidosis type IV (PMID: 11030752). This variant is present in population databases (rs121908373, gnomAD 0.007%). |
Fulgent Genetics, |
RCV000005443 | SCV002809126 | pathogenic | Mucolipidosis type IV | 2021-10-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005443 | SCV000025625 | pathogenic | Mucolipidosis type IV | 2000-10-12 | no assertion criteria provided | literature only | |
Counsyl | RCV000005443 | SCV001132246 | likely pathogenic | Mucolipidosis type IV | 2015-07-22 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000005443 | SCV002091365 | pathogenic | Mucolipidosis type IV | 2017-03-17 | no assertion criteria provided | clinical testing |