ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile)

gnomAD frequency: 0.00001  dbSNP: rs144411419
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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 RCV001931054 SCV002194997 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 626 of the TTC21B protein (p.Val626Ile). This variant is present in population databases (rs144411419, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002503608 SCV002794232 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-10 criteria provided, single submitter clinical testing

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