ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)

gnomAD frequency: 0.00025  dbSNP: rs150616080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063718 SCV001228577 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln200*) in the IFT43 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the IFT43 protein. This variant is present in population databases (rs150616080, gnomAD 0.06%). 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: 857944). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002497455 SCV002794500 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-04-16 criteria provided, single submitter clinical testing

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