ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3302G>C (p.Gly1101Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002896876 SCV003639134 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.3455G>C (p.G1152A) alteration is located in exon 28 (coding exon 28) of the IFT122 gene. This alteration results from a G to C substitution at nucleotide position 3455, causing the glycine (G) at amino acid position 1152 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005028381 SCV005661421 uncertain significance Cranioectodermal dysplasia 1 2024-04-22 criteria provided, single submitter clinical testing

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