ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr)

gnomAD frequency: 0.00002  dbSNP: rs776721597
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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 RCV001899094 SCV002170055 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1191 of the TTC21B protein (p.Ile1191Thr). This variant is present in population databases (rs776721597, gnomAD 0.004%). 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: 1404778). 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.
GeneDx RCV002265044 SCV002546986 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478334 SCV002789858 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-29 criteria provided, single submitter clinical testing

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