ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)

gnomAD frequency: 0.00002  dbSNP: rs138139922
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920756 SCV002184889 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1049 of the IFT172 protein (p.Glu1049Ala). This variant is present in population databases (rs138139922, gnomAD 0.004%). 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: 1411653). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002484463 SCV002786601 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556310 SCV003562172 uncertain significance Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing The c.3146A>C (p.E1049A) alteration is located in exon 29 (coding exon 29) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 3146, causing the glutamic acid (E) at amino acid position 1049 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693947 SCV005187458 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV004693947 SCV005385680 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33574475)

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