ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)

gnomAD frequency: 0.00003  dbSNP: rs747515104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084102 SCV003469425 likely benign Jeune thoracic dystrophy; Nephronophthisis 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071808 SCV004972681 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.2251C>G (p.Q751E) alteration is located in exon 17 (coding exon 17) of the TTC21B gene. This alteration results from a C to G substitution at nucleotide position 2251, causing the glutamine (Q) at amino acid position 751 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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