ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.273-281_273-271del

dbSNP: rs1559868433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001783466 SCV002810624 likely pathogenic Cranioectodermal dysplasia 1 2022-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416445 SCV004117488 likely pathogenic IFT122-related disorder 2023-01-24 criteria provided, single submitter clinical testing The IFT122 c.366_376del11 variant is predicted to result in a frameshift and premature protein termination (p.Gly123Glufs*3). This variant was reported in an individual with cranioectodermal dysplasia (Yang et al. 2021. PubMed ID: 33717254). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-129179789-AAGGCCAAGGTG-A). Frameshift variants in IFT122 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
OMIM RCV001783466 SCV002041899 pathogenic Cranioectodermal dysplasia 1 2021-12-22 no assertion criteria provided literature only

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