ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)

gnomAD frequency: 0.00024  dbSNP: rs147933112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352434 SCV001546986 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 31 of the IFT43 protein (p.Ala31Val). This variant is present in population databases (rs147933112, gnomAD 0.05%). 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: 314467). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002487391 SCV002793712 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629184 SCV005121115 uncertain significance not specified 2024-05-06 criteria provided, single submitter clinical testing The c.92C>T (p.A31V) alteration is located in exon 2 (coding exon 2) of the IFT43 gene. This alteration results from a C to T substitution at nucleotide position 92, causing the alanine (A) at amino acid position 31 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001352434 SCV005193718 uncertain significance not provided criteria provided, single submitter not provided

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