ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)

gnomAD frequency: 0.00036  dbSNP: rs148626512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637014 SCV000758462 likely benign Cranioectodermal dysplasia 1 2023-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001756057 SCV001997100 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000637014 SCV002814503 uncertain significance Cranioectodermal dysplasia 1 2022-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025487 SCV004885903 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1405G>A (p.D469N) alteration is located in exon 13 (coding exon 13) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 1405, causing the aspartic acid (D) at amino acid position 469 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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