ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu)

gnomAD frequency: 0.00003  dbSNP: rs202182087
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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 RCV001315644 SCV001506228 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 127 of the IFT43 protein (p.Pro127Leu). This variant is present in population databases (rs202182087, gnomAD 0.02%). 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: 1016616). 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. 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.
Ambry Genetics RCV004034362 SCV003734514 uncertain significance not specified 2021-06-21 criteria provided, single submitter clinical testing The c.380C>T (p.P127L) alteration is located in exon 5 (coding exon 5) of the IFT43 gene. This alteration results from a C to T substitution at nucleotide position 380, causing the proline (P) at amino acid position 127 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005163 SCV005633362 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-05-23 criteria provided, single submitter clinical testing

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