ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2914G>A (p.Asp972Asn) (rs1555478031)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522436 SCV000621290 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing The D972N variant in the IFT140 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D972N variant is not observed in large population cohorts (Lek et al., 2016). The D972N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, however, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D972N as a variant of uncertain significance.

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