ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)

gnomAD frequency: 0.00001  dbSNP: rs752083773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040599 SCV001204183 uncertain significance Multiple sulfatase deficiency 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 80 of the SUMF1 protein (p.Val80Glu). This variant is present in population databases (rs752083773, gnomAD 0.05%). 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: 838941). 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. 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 RCV003160266 SCV003904558 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.239T>A (p.V80E) alteration is located in exon 1 (coding exon 1) of the SUMF1 gene. This alteration results from a T to A substitution at nucleotide position 239, causing the valine (V) at amino acid position 80 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001040599 SCV001460626 likely benign Multiple sulfatase deficiency 2020-04-23 no assertion criteria provided clinical testing

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