ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter)

dbSNP: rs1575197564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791660 SCV000930919 pathogenic Multiple sulfatase deficiency 2022-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp220*) 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. ClinVar contains an entry for this variant (Variation ID: 638975). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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