ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys)

gnomAD frequency: 0.00009  dbSNP: rs377393152
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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 RCV002032097 SCV002312098 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1225 of the TTC21B protein (p.Arg1225Cys). This variant is present in population databases (rs377393152, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1524954). 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 cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002479835 SCV002787999 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970831 SCV005523483 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.3673C>T (p.R1225C) alteration is located in exon 26 (coding exon 26) of the TTC21B gene. This alteration results from a C to T substitution at nucleotide position 3673, causing the arginine (R) at amino acid position 1225 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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