ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)

gnomAD frequency: 0.00001  dbSNP: rs367841432
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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 RCV002770198 SCV003026347 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-12 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. 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. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (rs367841432, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1247 of the TTC21B protein (p.Tyr1247Cys).

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