ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly)

gnomAD frequency: 0.00014  dbSNP: rs755060067
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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 RCV001435452 SCV001638275 likely benign Cranioectodermal dysplasia 1 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542259 SCV003609397 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.1292A>G (p.E431G) alteration is located in exon 12 (coding exon 12) of the IFT122 gene. This alteration results from a A to G substitution at nucleotide position 1292, causing the glutamic acid (E) at amino acid position 431 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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