ClinVar Miner

Submissions for variant NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)

gnomAD frequency: 0.00030  dbSNP: rs117639561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176173 SCV000227788 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852171 SCV002268426 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 814 of the SULF1 protein (p.Val814Met). This variant is present in population databases (rs117639561, gnomAD 0.07%), 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: 195575). 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 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.

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