ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.16G>C (p.Asp6His)

gnomAD frequency: 0.00019  dbSNP: rs201966792
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995218 SCV001149274 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000995218 SCV001219638 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 6 of the IFT43 protein (p.Asp6His). This variant is present in population databases (rs201966792, gnomAD 0.08%). 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: 807149). 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"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279688 SCV002566845 uncertain significance Connective tissue disorder 2019-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481772 SCV002788781 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000995218 SCV005078509 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004629399 SCV005121114 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing The c.16G>C (p.D6H) alteration is located in exon 1 (coding exon 1) of the IFT43 gene. This alteration results from a G to C substitution at nucleotide position 16, causing the aspartic acid (D) at amino acid position 6 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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