ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly)

gnomAD frequency: 0.00014  dbSNP: rs143942705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703711 SCV000832625 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536373 SCV003558627 uncertain significance Inborn genetic diseases 2021-05-27 criteria provided, single submitter clinical testing The c.3509C>G (p.A1170G) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a C to G substitution at nucleotide position 3509, causing the alanine (A) at amino acid position 1170 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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