ClinVar Miner

Submissions for variant NM_001128205.2(SULF1):c.1595A>G (p.Lys532Arg)

gnomAD frequency: 0.00021  dbSNP: rs149298828
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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 RCV001872675 SCV002142736 uncertain significance not provided 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 532 of the SULF1 protein (p.Lys532Arg). This variant is present in population databases (rs149298828, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SULF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1372016). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV004040539 SCV003865107 uncertain significance not specified 2023-01-18 criteria provided, single submitter clinical testing The c.1595A>G (p.K532R) alteration is located in exon 15 (coding exon 11) of the SULF1 gene. This alteration results from a A to G substitution at nucleotide position 1595, causing the lysine (K) at amino acid position 532 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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