ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3771del (p.Leu1258fs)

dbSNP: rs1554304508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520565 SCV000620682 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The c.3771delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.3771delT variant causes a frameshift starting with codon Leucine 1258, changes this amino acid to a Serine residue and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Leu1258SerfsX24. However, the variant is not predicted to lead to nonsense-mediated mRNA decay. In summary, this variant is likely pathogenic.

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