ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)

gnomAD frequency: 0.00003  dbSNP: rs137853116
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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 RCV002512630 SCV003459498 uncertain significance Jeune thoracic dystrophy 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 701 of the IFT80 protein (p.Ala701Pro). This variant is present in population databases (rs137853116, gnomAD 0.03%). This missense change has been observed in individual(s) with Jeune asphyxiating thoracic dystrophy (PMID: 17468754). ClinVar contains an entry for this variant (Variation ID: 991). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV000001046 SCV003813261 uncertain significance Asphyxiating thoracic dystrophy 2 2022-08-12 criteria provided, single submitter clinical testing
GeneDx RCV004719604 SCV005325189 likely pathogenic not provided 2023-08-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Markova2022[Article], Ranganath2022[Abstract], 34429528, 17468754, 29658880)
OMIM RCV000001046 SCV000021196 pathogenic Asphyxiating thoracic dystrophy 2 2007-06-01 no assertion criteria provided literature only

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