ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2710G>A (p.Asp904Asn)

dbSNP: rs1666450205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820566 SCV002070172 uncertain significance not specified 2020-02-27 criteria provided, single submitter clinical testing DNA sequence analysis of the IFT172 gene demonstrated a sequence change, c.2710G>A, in exon 25 that results in an amino acid change, p.Asp904Asn. This sequence change does not appear to have been previously described in patients with IFT172-related disorders and has also not been described in population databases (gnomAD, ExAC). The p.Asp904Asn change affects a moderately conserved amino acid residue located in a domain of the IFT172 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asp904Asn substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp904Asn change remains unknown at this time.
GeneDx RCV002291770 SCV002584487 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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