ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1992G>A (p.Lys664=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922663 SCV003264259 uncertain significance Cranioectodermal dysplasia 1 2022-08-12 criteria provided, single submitter clinical testing This sequence change affects codon 715 of the IFT122 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IFT122 protein. This variant also falls at the last nucleotide of exon 17, which is part of the consensus splice site for this exon. This variant is present in population databases (rs535606113, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002922663 SCV005661335 uncertain significance Cranioectodermal dysplasia 1 2024-01-22 criteria provided, single submitter clinical testing

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