ClinVar Miner

Submissions for variant NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr)

gnomAD frequency: 0.00001  dbSNP: rs1223225659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867166 SCV002118276 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 12 of the TMEM240 protein (p.Ile12Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TMEM240-related conditions. 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: "Benign"; 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.
Revvity Omics, Revvity RCV003136209 SCV003825405 uncertain significance Spinocerebellar ataxia type 21 2021-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375377 SCV004095401 uncertain significance Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing The c.35T>C (p.I12T) alteration is located in exon 1 (coding exon 1) of the TMEM240 gene. This alteration results from a T to C substitution at nucleotide position 35, causing the isoleucine (I) at amino acid position 12 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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