ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.296-5681A>G

gnomAD frequency: 0.00002  dbSNP: rs755977535
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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 RCV001037516 SCV001200933 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 78 of the IFT43 protein (p.Lys78Arg). This variant is present in population databases (rs755977535, 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: 836397). 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 RCV002489546 SCV002801358 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031032 SCV003547109 uncertain significance not specified 2024-07-17 criteria provided, single submitter clinical testing The c.233A>G (p.K78R) alteration is located in exon 4 (coding exon 4) of the IFT43 gene. This alteration results from a A to G substitution at nucleotide position 233, causing the lysine (K) at amino acid position 78 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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