ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe)

gnomAD frequency: 0.00001  dbSNP: rs184561530
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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 RCV001297087 SCV001486070 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 937 of the TTC21B protein (p.Cys937Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is present in population databases (rs184561530, ExAC 0.01%). This variant has not been reported in the literature in individuals with TTC21B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002499545 SCV002790581 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004679050 SCV005173744 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.2810G>T (p.C937F) alteration is located in exon 21 (coding exon 21) of the TTC21B gene. This alteration results from a G to T substitution at nucleotide position 2810, causing the cysteine (C) at amino acid position 937 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004734100 SCV005353192 uncertain significance TTC21B-related disorder 2024-08-17 no assertion criteria provided clinical testing The TTC21B c.2810G>T variant is predicted to result in the amino acid substitution p.Cys937Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. 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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