ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002652911 SCV003534397 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.2031T>G (p.D677E) alteration is located in exon 17 (coding exon 17) of the IFT122 gene. This alteration results from a T to G substitution at nucleotide position 2031, causing the aspartic acid (D) at amino acid position 677 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004765703 SCV005375513 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005028337 SCV005657085 uncertain significance Cranioectodermal dysplasia 1 2024-04-09 criteria provided, single submitter clinical testing

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