ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)

gnomAD frequency: 0.00009  dbSNP: rs139653847
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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 RCV001372815 SCV001569504 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488179 SCV002787601 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548665 SCV003714813 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1883G>A (p.R628H) alteration is located in exon 14 (coding exon 14) of the TTC21B gene. This alteration results from a G to A substitution at nucleotide position 1883, causing the arginine (R) at amino acid position 628 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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