ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg)

dbSNP: rs771422892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035700 SCV002290336 uncertain significance Cataract 13 with adult I phenotype 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 32 of the GCNT2 protein (p.Ser32Arg). This variant is present in population databases (rs771422892, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GCNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1499083). 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.

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