ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del)

dbSNP: rs757389950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483626 SCV000571319 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001851222 SCV002175366 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing This variant, c.2777_2791del, results in the deletion of 5 amino acid(s) of the TTC21B protein (p.Arg926_Ala930del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757389950, gnomAD 0.1%). 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: 421970). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV005018811 SCV005651235 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735564 SCV005347677 uncertain significance TTC21B-related disorder 2024-08-16 no assertion criteria provided clinical testing The TTC21B c.2777_2791del15 variant is predicted to result in an in-frame deletion (p.Arg926_Ala930del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.

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