ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)

dbSNP: rs121917712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000014835 SCV002572662 likely pathogenic Greig cephalopolysyndactyly syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. While this variant results in missense change, protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.62; 3Cnet: 0.62). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with GLI3 -related disorder (ClinVar ID: VCV000013824 / PMID: 15739154). However, the evidence of pathogenicity is insufficient at this time. A different missense change at the same codon (p.Arg625Gln) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000528805). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000014835 SCV000035090 pathogenic Greig cephalopolysyndactyly syndrome 2003-07-01 no assertion criteria provided literature only

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