ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.425C>T (p.Ser142Leu)

dbSNP: rs2125133568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024088 SCV002310368 uncertain significance Multiple sulfatase deficiency 2021-01-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 142 of the SUMF1 protein (p.Ser142Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant has not been reported in the literature in individuals with SUMF1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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