ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe)

gnomAD frequency: 0.00008  dbSNP: rs746534141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634031 SCV000755309 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-07-04 criteria provided, single submitter clinical testing
GeneDx RCV001584461 SCV001818322 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004025441 SCV004876188 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.3079C>T (p.L1027F) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a C to T substitution at nucleotide position 3079, causing the leucine (L) at amino acid position 1027 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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