ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)

dbSNP: rs765731241
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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 RCV001295515 SCV001484440 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-09-27 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 999506). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 566 of the IFT172 protein (p.Asp566Glu).
Fulgent Genetics, Fulgent Genetics RCV002493552 SCV002790184 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538452 SCV003748269 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1698T>A (p.D566E) alteration is located in exon 17 (coding exon 17) of the IFT172 gene. This alteration results from a T to A substitution at nucleotide position 1698, causing the aspartic acid (D) at amino acid position 566 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004548133 SCV004112126 uncertain significance IFT172-related disorder 2023-05-12 criteria provided, single submitter clinical testing The IFT172 c.1698T>A variant is predicted to result in the amino acid substitution p.Asp566Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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