Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001942248 | SCV002228238 | pathogenic | Multiple sulfatase deficiency | 2021-05-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with multiple sulfatase deficiency (PMID: 12757706). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile94Serfs*15) in the SUMF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUMF1 are known to be pathogenic (PMID: 12757705, 12757706, 25885655). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001942248 | SCV002571052 | likely pathogenic | Multiple sulfatase deficiency | 2022-07-14 | criteria provided, single submitter | clinical testing | Variant summary: SUMF1 c.279delC (p.Ile94SerfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249630 control chromosomes (gnomAD). c.279delC has been reported in the literature in an individual affected with Multiple Sulfatase Deficiency (Cosma_2003). A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV001942248 | SCV000022951 | pathogenic | Multiple sulfatase deficiency | 2003-05-16 | no assertion criteria provided | literature only |