ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys)

gnomAD frequency: 0.00001  dbSNP: rs768928173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001260989 SCV001438365 uncertain significance Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2020-10-01 criteria provided, single submitter clinical testing This GLI2 variant (rs768928173) is rare (<0.1%) in a large population dataset (gnomAD: 3/233630 total alleles; 0.001%; no homozygotes) and has not been reported previously in the literature to our knowledge. Two bioinformatics tools predict this variant would be tolerated while another predicts it would be damaging. The glutamate at this position is conserved across most species assessed except sarcopterygii, which have aspartate at this position. This variant is not predicted to affect normal exon 13 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.4126G>A to be uncertain at this time.

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