ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)

gnomAD frequency: 0.00011  dbSNP: rs373098915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339234 SCV001532964 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1666 of the IFT172 protein (p.Glu1666Lys). This variant is present in population databases (rs373098915, gnomAD 0.02%). 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: 1036252). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002476565 SCV002797138 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548184 SCV004752923 uncertain significance IFT172-related disorder 2023-12-14 criteria provided, single submitter clinical testing The IFT172 c.4996G>A variant is predicted to result in the amino acid substitution p.Glu1666Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% 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.
Ambry Genetics RCV004035888 SCV004886233 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.4996G>A (p.E1666K) alteration is located in exon 46 (coding exon 46) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 4996, causing the glutamic acid (E) at amino acid position 1666 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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