ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys)

dbSNP: rs959524376
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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 RCV001939761 SCV002169552 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 50 of the TCTN2 protein (p.Glu50Lys). This variant is not present in population databases (gnomAD no frequency). 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: 1402088). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TCTN2 protein function with a positive predictive value of 80%. 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 RCV005006194 SCV005631960 uncertain significance Meckel syndrome, type 8; Joubert syndrome 24 2024-01-25 criteria provided, single submitter clinical testing

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