ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)

dbSNP: rs763244073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002839014 SCV003215138 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-06-29 criteria provided, single submitter clinical testing 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 sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 480 of the TTC21B protein (p.Val480Ile). This variant is present in population databases (rs763244073, gnomAD 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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