ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)

gnomAD frequency: 0.00002  dbSNP: rs387907277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000030730 SCV001290953 uncertain significance Holoprosencephaly 9 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513275 SCV003277584 uncertain significance Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-06-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 37083). This missense change has been observed in individual(s) with clinical features of GLI2-related conditions (PMID: 21204792). This variant is present in population databases (rs387907277, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 629 of the GLI2 protein (p.Glu629Lys).
OMIM RCV000030730 SCV000053391 pathogenic Holoprosencephaly 9 2012-01-01 no assertion criteria provided literature only

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