ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)

gnomAD frequency: 0.00017  dbSNP: rs367690496
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977178 SCV002259440 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1263 of the TTC21B protein (p.Arg1263Trp). This variant is present in population databases (rs367690496, gnomAD 0.03%). 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 disruptive. 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 RCV002484871 SCV002783797 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136391 SCV003821646 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529069 SCV004109520 uncertain significance TTC21B-related disorder 2023-04-08 criteria provided, single submitter clinical testing The TTC21B c.3787C>T variant is predicted to result in the amino acid substitution p.Arg1263Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-166737207-G-A). 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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