ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1994G>A (p.Ser665Asn)

gnomAD frequency: 0.00011  dbSNP: rs199817194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937939 SCV002183809 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 510 of the GLIS3 protein (p.Ser510Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs199817194, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with GLIS3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Fulgent Genetics, Fulgent Genetics RCV002503567 SCV002814063 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2021-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001937939 SCV005196286 uncertain significance not provided criteria provided, single submitter not provided

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