ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.707G>A (p.Arg236Gln)

dbSNP: rs768700845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025437 SCV002275903 uncertain significance Multiple sulfatase deficiency 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 236 of the SUMF1 protein (p.Arg236Gln). This variant is present in population databases (rs768700845, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SUMF1-related conditions. 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 disruptive. 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.
Ambry Genetics RCV004042512 SCV004959609 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.707G>A (p.R236Q) alteration is located in exon 5 (coding exon 5) of the SUMF1 gene. This alteration results from a G to A substitution at nucleotide position 707, causing the arginine (R) at amino acid position 236 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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