ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002716819 SCV003001232 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2023-06-29 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. 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. ClinVar contains an entry for this variant (Variation ID: 1966772). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 18 of the TTC21B protein (p.Tyr18Asp).
Ambry Genetics RCV003269260 SCV003982792 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.52T>G (p.Y18D) alteration is located in exon 2 (coding exon 2) of the TTC21B gene. This alteration results from a T to G substitution at nucleotide position 52, causing the tyrosine (Y) at amino acid position 18 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005027928 SCV005653398 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-23 criteria provided, single submitter clinical testing

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