ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser)

gnomAD frequency: 0.00001  dbSNP: rs1359937590
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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 RCV001294567 SCV001483448 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IFT43-related conditions. This sequence change replaces proline with serine at codon 126 of the IFT43 protein (p.Pro126Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002499538 SCV002812183 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2021-07-15 criteria provided, single submitter clinical testing

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