ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)

gnomAD frequency: 0.00014  dbSNP: rs371376632
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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 RCV000458618 SCV000553365 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 91 of the TTC21B protein (p.Ala91Asp). This variant is present in population databases (rs371376632, gnomAD 0.01%). 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: 411950). 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: "Deleterious"; 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.
Fulgent Genetics, Fulgent Genetics RCV002489085 SCV002812288 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533202 SCV004721190 uncertain significance TTC21B-related disorder 2024-09-16 no assertion criteria provided clinical testing The TTC21B c.272C>A variant is predicted to result in the amino acid substitution p.Ala91Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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