ClinVar Miner

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

dbSNP: rs746697405
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386105 SCV000395076 uncertain significance Saldino-Mainzer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000386105 SCV001417925 benign Saldino-Mainzer syndrome 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000386105 SCV004810155 uncertain significance Saldino-Mainzer syndrome 2024-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021042 SCV004886193 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.3955_3960delGCCAAG (p.A1319_K1320del) alteration is located in exon 29 (coding exon 27) of the IFT140 gene. This alteration consists of an in-frame deletion of 6 nucleotides between nucleotide positions c.3955 and c.3960, resulting in the deletion of 2 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000256471 SCV000322798 likely pathogenic Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001795477 SCV002034619 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795477 SCV002035672 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795477 SCV002038205 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004752816 SCV005344621 uncertain significance IFT140-related disorder 2024-04-04 no assertion criteria provided clinical testing The IFT140 c.3955_3960del6 variant is predicted to result in an in-frame deletion (p.Ala1319_Lys1320del). This variant was reported in the homozygous state in an individual with short-rib thoracic dysplasia/oral-facial-digital syndrome (Patient 12DG1103, Table S3, Shaheen et al. 2016. PubMed ID: 27894351; Table S1, Shamseldin et al. 2021. PubMed ID: 34645488). This variant is reported in 0.36% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, including one homozygote. This variant has been reported in ClinVar with conflicting interpretations of likely pathogenic (1), uncertain (4), and benign (1) (https://www.ncbi.nlm.nih.gov/clinvar/variation/266103/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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