ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)

gnomAD frequency: 0.00001  dbSNP: rs148997142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920935 SCV002194387 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-06-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is present in population databases (rs148997142, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1066 of the IFT172 protein (p.Arg1066Trp).
Fulgent Genetics, Fulgent Genetics RCV002484495 SCV002778560 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043474 SCV004886220 uncertain significance Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.3196C>T (p.R1066W) alteration is located in exon 29 (coding exon 29) of the IFT172 gene. This alteration results from a C to T substitution at nucleotide position 3196, causing the arginine (R) at amino acid position 1066 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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