ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.938C>T (p.Thr313Met)

gnomAD frequency: 0.00002  dbSNP: rs753478409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197068 SCV000255039 uncertain significance Jeune thoracic dystrophy 2019-01-10 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with IFT80-related conditions. ClinVar contains an entry for this variant (Variation ID: 216710). This variant is present in population databases (rs753478409, ExAC 0.01%). This sequence change replaces threonine with methionine at codon 313 of the IFT80 protein (p.Thr313Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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