ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)

gnomAD frequency: 0.00001  dbSNP: rs745836391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002755809 SCV003016954 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 805 of the TTC21B protein (p.Tyr805Cys). This variant is present in population databases (rs745836391, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.

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