ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.691dup (p.Trp231fs)

dbSNP: rs748337915
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Total submissions: 4
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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 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, Revvity RCV001193352 SCV002021989 pathogenic Multiple sulfatase deficiency 2022-06-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001193352 SCV002027611 pathogenic Multiple sulfatase deficiency 2021-09-05 criteria provided, single submitter clinical testing

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