ClinVar Miner

Submissions for variant NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs)

dbSNP: rs864309658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230970 SCV001403472 uncertain significance not provided 2023-12-03 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the IFT81 gene (p.Asp672Alafs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the IFT81 protein and extend the protein by 9 additional amino acid residues. This variant is present in population databases (rs763354429, gnomAD 0.04%). This frameshift has been observed in individual(s) with retinal disease and intellectual disability (PMID: 26275418). ClinVar contains an entry for this variant (Variation ID: 218893). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on IFT81 function (PMID: 26275418). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV001230970 SCV005191987 uncertain significance not provided criteria provided, single submitter not provided
3billion RCV005252810 SCV005905763 uncertain significance Short-rib thoracic dysplasia 19 with or without polydactyly 2023-09-13 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.007%). Predicted Consequence/Location: Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. The variant has been reported to be associated with IFT81 related disorder (PMID: 26275418). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
OMIM RCV000203241 SCV000258308 uncertain significance Ciliopathy 2015-10-01 no assertion criteria provided literature only

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