ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)

dbSNP: rs776028375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277573 SCV003471982 uncertain significance Multiple sulfatase deficiency 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 10 of the SUMF1 protein (p.Cys10Arg). This variant is present in population databases (rs776028375, gnomAD 0.04%). 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: 989690). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 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.
Natera, Inc. RCV001277573 SCV001464533 likely benign Multiple sulfatase deficiency 2020-10-29 no assertion criteria provided clinical testing

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