ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His)

gnomAD frequency: 0.00001  dbSNP: rs1685493736
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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 RCV001976740 SCV002263237 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 1479373). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 928 of the TTC21B protein (p.Tyr928His).

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