ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp)

gnomAD frequency: 0.00001  dbSNP: rs1403922219
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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 RCV001907336 SCV002121298 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-09-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1361055). 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. 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 sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1089 of the TTC21B protein (p.Asn1089Asp). This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences RCV004734298 SCV005363137 uncertain significance TTC21B-related disorder 2024-08-27 no assertion criteria provided clinical testing The TTC21B c.3265A>G variant is predicted to result in the amino acid substitution p.Asn1089Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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