ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)

dbSNP: rs773698142
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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 RCV002664260 SCV003524744 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-08-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 426 of the TTC21B protein (p.His426Asp). This variant is present in population databases (rs773698142, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of nephronophthisis (PMID: 26940125). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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