ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002833102 SCV003209779 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973656 SCV005596418 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.4186G>C (p.A1396P) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a G to C substitution at nucleotide position 4186, causing the alanine (A) at amino acid position 1396 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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