ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)

gnomAD frequency: 0.00004  dbSNP: rs557159295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278763 SCV002566837 uncertain significance Connective tissue disorder 2021-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096281 SCV003456486 uncertain significance Cranioectodermal dysplasia 1 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1166 of the IFT122 protein (p.Val1166Leu). This variant is present in population databases (rs557159295, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT122 protein function. 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.
Ambry Genetics RCV003096282 SCV003747864 uncertain significance Inborn genetic diseases 2024-03-31 criteria provided, single submitter clinical testing The c.3496G>T (p.V1166L) alteration is located in exon 28 (coding exon 28) of the IFT122 gene. This alteration results from a G to T substitution at nucleotide position 3496, causing the valine (V) at amino acid position 1166 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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