ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn)

gnomAD frequency: 0.00002  dbSNP: rs886320788
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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 RCV000634033 SCV000755311 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528864 SCV003535146 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.1474G>A (p.D492N) alteration is located in exon 10 (coding exon 9) of the GLI3 gene. This alteration results from a G to A substitution at nucleotide position 1474, causing the aspartic acid (D) at amino acid position 492 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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