ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.950A>G (p.Asn317Ser)

gnomAD frequency: 0.00002  dbSNP: rs201716083
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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 RCV002010904 SCV002290624 uncertain significance not provided 2024-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 162 of the GLIS3 protein (p.Asn162Ser). This variant is present in population databases (rs201716083, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with GLIS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1502124). 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.
Fulgent Genetics, Fulgent Genetics RCV002498015 SCV002806838 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2021-12-25 criteria provided, single submitter clinical testing

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