ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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, 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, Inc. RCV000002784 SCV002079161 pathogenic Multiple sulfatase deficiency 2021-08-03 no assertion criteria provided clinical testing

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