ClinVar Miner

Submissions for variant NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser)

gnomAD frequency: 0.00004  dbSNP: rs538017286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207377 SCV000259143 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765337 SCV004688202 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 177 of the SULF1 protein (p.Gly177Ser). This variant is present in population databases (rs538017286, gnomAD 0.005%). This missense change has been observed in individual(s) with ocular developmental anomalies (PMID: 26893459). ClinVar contains an entry for this variant (Variation ID: 221945). 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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