ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile)

gnomAD frequency: 0.00001  dbSNP: rs569067100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508307 SCV000605475 uncertain significance not specified 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857281 SCV002225198 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 440361). This variant is present in population databases (rs569067100, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1264 of the TTC21B protein (p.Thr1264Ile).
Ambry Genetics RCV004023440 SCV004972694 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.3791C>T (p.T1264I) alteration is located in exon 27 (coding exon 27) of the TTC21B gene. This alteration results from a C to T substitution at nucleotide position 3791, causing the threonine (T) at amino acid position 1264 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005018870 SCV005652175 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-02-21 criteria provided, single submitter clinical testing

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