ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.349+5G>A

gnomAD frequency: 0.00004  dbSNP: rs376595844
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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 RCV000004900 SCV002206063 uncertain significance Cranioectodermal dysplasia 1 2023-08-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 6 and introduces a premature termination codon (PMID: 20493458). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 4637). This variant has been observed in individual(s) with IFT122-related conditions (PMID: 20493458). This variant is present in population databases (rs376595844, gnomAD 0.004%). This sequence change falls in intron 6 of the IFT122 gene. It does not directly change the encoded amino acid sequence of the IFT122 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000004900 SCV002779400 uncertain significance Cranioectodermal dysplasia 1 2022-05-26 criteria provided, single submitter clinical testing
OMIM RCV000004900 SCV000025076 pathogenic Cranioectodermal dysplasia 1 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000004900 SCV000087024 not provided Cranioectodermal dysplasia 1 no assertion provided literature only

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