ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)

dbSNP: rs137852851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000002792 SCV001384229 likely pathogenic Multiple sulfatase deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SUMF1 mRNA. The next in-frame methionine is located at codon 91. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed in individuals with SUMF1-related conditions (PMID: 12757706). ClinVar contains an entry for this variant (Variation ID: 2673). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000002792 SCV002782419 likely pathogenic Multiple sulfatase deficiency 2022-05-25 criteria provided, single submitter clinical testing
OMIM RCV000002792 SCV000022950 pathogenic Multiple sulfatase deficiency 2003-05-16 no assertion criteria provided literature only

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