Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000002784 | SCV000918296 | pathogenic | Multiple sulfatase deficiency | 2017-12-05 | criteria provided, single submitter | clinical testing | Variant summary: The SUMF1 c.979C>T (p.Arg327X) variant results in a premature termination codon, predicted to cause a truncated or absent SUMF1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. These predictions were confirmed by functional studies where p.Arg327* displayed no enzymatic activity (Cosma_2003 and Schlotawa_2011). This variant is absent from 246416 control chromosomes. It has been reported in multiple affected individuals in compound heterozygosity with known deleterious alleles (Cosma_2003, Dierks_2003). In addition, a reputable database classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV000002784 | SCV002227983 | pathogenic | Multiple sulfatase deficiency | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg327*) in the SUMF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the SUMF1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple sulfatase deficiency (PMID: 12757705, 12757706, 29479672). ClinVar contains an entry for this variant (Variation ID: 2665). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects SUMF1 function (PMID: 12757706). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000002784 | SCV002811519 | pathogenic | Multiple sulfatase deficiency | 2021-09-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002784 | SCV000022942 | pathogenic | Multiple sulfatase deficiency | 2003-05-16 | no assertion criteria provided | literature only | |
Natera, |
RCV000002784 | SCV002079161 | pathogenic | Multiple sulfatase deficiency | 2021-08-03 | no assertion criteria provided | clinical testing |