ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)

gnomAD frequency: 0.00002  dbSNP: rs776765352
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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 RCV002727023 SCV003005207 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is present in population databases (rs776765352, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 101 of the TTC21B protein (p.Glu101Gln).
Fulgent Genetics, Fulgent Genetics RCV005027929 SCV005653387 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-01-29 criteria provided, single submitter clinical testing

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