ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser)

gnomAD frequency: 0.00004  dbSNP: rs771335558
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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 RCV000531923 SCV000634621 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 689 of the TCTN2 protein (p.Trp689Ser). This variant is present in population databases (rs771335558, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 461765). 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 RCV005010498 SCV005634168 uncertain significance Meckel syndrome, type 8; Joubert syndrome 24 2024-05-17 criteria provided, single submitter clinical testing

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