ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe)

gnomAD frequency: 0.00001  dbSNP: rs1955784094
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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 RCV002016098 SCV002305686 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-02-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 112 of the TCTN2 protein (p.Ser112Phe). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine 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.
Ambry Genetics RCV004970775 SCV005511823 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.335C>T (p.S112F) alteration is located in exon 4 (coding exon 4) of the TCTN2 gene. This alteration results from a C to T substitution at nucleotide position 335, causing the serine (S) at amino acid position 112 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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