ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.444+5G>A

gnomAD frequency: 0.00017  dbSNP: rs377078385
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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 RCV001988738 SCV002283903 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the IFT43 gene. It does not directly change the encoded amino acid sequence of the IFT43 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1491570). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002492276 SCV002793280 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2021-11-09 criteria provided, single submitter clinical testing

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