ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys)

dbSNP: rs1685925745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295338 SCV001484254 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-02-04 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 999353). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 804 of the TTC21B protein (p.Trp804Cys).
Fulgent Genetics, Fulgent Genetics RCV002499542 SCV002777898 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-06-18 criteria provided, single submitter clinical testing

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