ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg)

gnomAD frequency: 0.00001  dbSNP: rs745900529
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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 RCV002044617 SCV002108080 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-03-27 criteria provided, single submitter clinical testing 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"). 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. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (rs745900529, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1179 of the TTC21B protein (p.Gln1179Arg).

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