Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193352 | SCV001362110 | pathogenic | Multiple sulfatase deficiency | 2022-02-07 | criteria provided, single submitter | clinical testing | Variant summary: SUMF1 c.691dupT (p.Trp231LeufsX11) 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 allele was found at a frequency of 2.4e-05 in 251400 control chromosomes. c.691dupT has been reported in the literature in individuals affected with Multiple Sulfatase Deficiency (Kotecha_2014, Al-Shamsi_2016, Al-Kouatly_2021). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Invitae | RCV001193352 | SCV001591306 | pathogenic | Multiple sulfatase deficiency | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp231Leufs*11) 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). This variant is present in population databases (rs748337915, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with multiple sulphatase deficiency (PMID: 25222778). ClinVar contains an entry for this variant (Variation ID: 928845). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001193352 | SCV002021989 | pathogenic | Multiple sulfatase deficiency | 2022-06-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001193352 | SCV002027611 | pathogenic | Multiple sulfatase deficiency | 2021-09-05 | criteria provided, single submitter | clinical testing |