ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.398G>A (p.Arg133His)

gnomAD frequency: 0.00002  dbSNP: rs755396441
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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 RCV001054816 SCV001219170 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 138 of the IFT43 protein (p.Arg138His). This variant is present in population databases (rs755396441, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. ClinVar contains an entry for this variant (Variation ID: 850608). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002479332 SCV002783779 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031731 SCV003745016 uncertain significance not specified 2022-06-03 criteria provided, single submitter clinical testing The c.413G>A (p.R138H) alteration is located in exon 6 (coding exon 6) of the IFT43 gene. This alteration results from a G to A substitution at nucleotide position 413, causing the arginine (R) at amino acid position 138 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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