ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val)

gnomAD frequency: 0.00001  dbSNP: rs200916824
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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 RCV001899337 SCV002128574 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 537 of the TTC21B protein (p.Leu537Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs200916824, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002482572 SCV002786714 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-08 criteria provided, single submitter clinical testing

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