ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.1039G>T (p.Ala347Ser)

gnomAD frequency: 0.00001  dbSNP: rs755981501
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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 RCV001887697 SCV002125003 uncertain significance Multiple sulfatase deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 347 of the SUMF1 protein (p.Ala347Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs755981501, ExAC 0.01%). This variant has not been reported in the literature in individuals with SUMF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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