ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) (rs746697405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386105 SCV000395076 uncertain significance Saldino-Mainzer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000386105 SCV001417925 uncertain significance Saldino-Mainzer syndrome 2020-10-12 criteria provided, single submitter clinical testing This variant, c.3955_3960del, results in the deletion of 2 amino acids of the IFT140 protein (p.Ala1319_Lys1320del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746697405, ExAC 0.2%). This variant has been observed in an individual affected with short-rib thoracic dysplasia (PMID: 27894351). ClinVar contains an entry for this variant (Variation ID: 266103). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256471 SCV000322798 likely pathogenic Orofacial-digital syndrome III; Short-rib thoracic dysplasia 1 with or without polydactyly no assertion criteria provided research

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