ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly)

gnomAD frequency: 0.00001  dbSNP: rs1023671414
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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 RCV001062899 SCV001227724 uncertain significance not provided 2022-07-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 857260). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 10 of the IFT43 protein (p.Glu10Gly).
Fulgent Genetics, Fulgent Genetics RCV005012512 SCV005633342 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-03-07 criteria provided, single submitter clinical testing

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