ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.914TTC[1] (p.Leu306del)

dbSNP: rs2468212814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333444 SCV004040998 uncertain significance Nephronophthisis 12 2023-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005228005 SCV005868781 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-08-29 criteria provided, single submitter clinical testing This variant, c.917_919del, results in the deletion of 1 amino acid(s) of the TTC21B protein (p.Leu306del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. 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.

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