ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu)

gnomAD frequency: 0.00025  dbSNP: rs538114464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518976 SCV000621291 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing The K1178E variant in the IFT140 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K1178E variant is observed in 27/33548 (0.08%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The K1178E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K1178E as a variant of uncertain significance.
Invitae RCV001853682 SCV002151035 likely benign Saldino-Mainzer syndrome 2024-01-31 criteria provided, single submitter clinical testing

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