ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) (rs766084603)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413340 SCV000491452 likely pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing The c.3250_3253dupGCGG variant in the IFT140 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3250_3253dupGCGG variant causes a frameshift starting with codon Valine 1085, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Val1085GlyfsX36. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3250_3253dupGCGG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3250_3253dupGCGG variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV001386349 SCV001586540 pathogenic Saldino-Mainzer syndrome 2020-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1085Glyfs*36) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766084603, ExAC 0.006%). This variant has not been reported in the literature in individuals with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 372916). Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). For these reasons, this variant has been classified as Pathogenic.

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