ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala)

dbSNP: rs1457311503
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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 RCV001926369 SCV002199604 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-03-10 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 710 of the TTC21B protein (p.Thr710Ala).
Fulgent Genetics, Fulgent Genetics RCV002484570 SCV002785772 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002558468 SCV003662769 uncertain significance Inborn genetic diseases 2022-11-03 criteria provided, single submitter clinical testing The c.2128A>G (p.T710A) alteration is located in exon 15 (coding exon 15) of the TTC21B gene. This alteration results from a A to G substitution at nucleotide position 2128, causing the threonine (T) at amino acid position 710 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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