Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001304875 | SCV001494180 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1710 of the IFT172 protein (p.Asp1710Asn). This variant is present in population databases (rs542662514, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007656). 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 IFT172 protein function. 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. |
Prevention |
RCV004548148 | SCV004757276 | uncertain significance | IFT172-related disorder | 2024-01-30 | criteria provided, single submitter | clinical testing | The IFT172 c.5128G>A variant is predicted to result in the amino acid substitution p.Asp1710Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004036329 | SCV004886234 | uncertain significance | Inborn genetic diseases | 2023-11-22 | criteria provided, single submitter | clinical testing | The c.5128G>A (p.D1710N) alteration is located in exon 47 (coding exon 47) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 5128, causing the aspartic acid (D) at amino acid position 1710 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |