ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)

dbSNP: rs778975466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008497 SCV001168268 likely pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing The c.162_163delCT variant in the GLI2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.162_163delCT variant causes a frameshift starting with codon Leucine 55, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Leu55AlafsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.162_163delCT variant is observed in 3/17248 (0.017%) alleles from individuals of East Asian background, in large population cohorts (Lek et al., 2016). We interpret c.162_163delCT as a likely pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002481813 SCV002787667 likely pathogenic Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-02-02 criteria provided, single submitter clinical testing

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