ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys)

gnomAD frequency: 0.00005  dbSNP: rs757730050
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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 RCV001934758 SCV002127730 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 871 of the TTC21B protein (p.Glu871Lys). This variant is present in population databases (rs757730050, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363116). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTC21B protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482519 SCV002788117 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-04-15 criteria provided, single submitter clinical testing

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