ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.832del (p.Thr278fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003497689 SCV004306233 pathogenic Multiple sulfatase deficiency 2023-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr278Leufs*17) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUMF1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003497689 SCV005660006 likely pathogenic Multiple sulfatase deficiency 2024-03-20 criteria provided, single submitter clinical testing

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