ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)

gnomAD frequency: 0.00003  dbSNP: rs374979653
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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 RCV001229121 SCV001401558 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 478 of the IFT172 protein (p.Asn478Asp). This variant is present in population databases (rs374979653, gnomAD 0.01%). 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: 956338). 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.
Ambry Genetics RCV002563157 SCV003743204 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.1432A>G (p.N478D) alteration is located in exon 15 (coding exon 15) of the IFT172 gene. This alteration results from a A to G substitution at nucleotide position 1432, causing the asparagine (N) at amino acid position 478 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029796 SCV005651465 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548082 SCV004120067 uncertain significance IFT172-related disorder 2024-08-06 no assertion criteria provided clinical testing The IFT172 c.1432A>G variant is predicted to result in the amino acid substitution p.Asn478Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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