ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr)

gnomAD frequency: 0.00001  dbSNP: rs769459956
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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 RCV001880441 SCV002119038 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-08-19 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (rs769459956, ExAC 0.01%). This sequence change replaces alanine with threonine at codon 1012 of the TTC21B protein (p.Ala1012Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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