ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)

dbSNP: rs1712517309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241682 SCV001414716 uncertain significance Jeune thoracic dystrophy 2022-11-29 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with IFT80-related conditions. This variant, c.239_250delinsGGGTTT, is a complex sequence change that results in the deletion of 5 and insertion of 3 amino acid(s) in the IFT80 protein (p.Phe80_Ser84delinsTrpValCys).
Fulgent Genetics, Fulgent Genetics RCV005029820 SCV005657938 uncertain significance Asphyxiating thoracic dystrophy 2 2024-06-15 criteria provided, single submitter clinical testing

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