ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser)

gnomAD frequency: 0.00006  dbSNP: rs200137653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545623 SCV000630964 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 513 of the TTC21B protein (p.Asn513Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs200137653, ExAC 0.02%). 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: 459285). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002483378 SCV002792088 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-11 criteria provided, single submitter clinical testing

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