ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu)

gnomAD frequency: 0.00001  dbSNP: rs1364155246
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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 RCV002028357 SCV002283561 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-09-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 3 of the TTC21B protein (p.Ser3Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.
Fulgent Genetics, Fulgent Genetics RCV002479709 SCV002785057 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-12-12 criteria provided, single submitter clinical testing

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