ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile)

gnomAD frequency: 0.00004  dbSNP: rs748051444
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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 RCV002235299 SCV000946188 uncertain significance Distal hereditary motor neuropathy type 2 2023-07-08 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt FBXO38 protein function. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 562 of the FBXO38 protein (p.Thr562Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FBXO38-related conditions. ClinVar contains an entry for this variant (Variation ID: 650945).
PreventionGenetics, part of Exact Sciences RCV003411778 SCV004112849 uncertain significance FBXO38-related disorder 2023-07-10 criteria provided, single submitter clinical testing The FBXO38 c.1685C>T variant is predicted to result in the amino acid substitution p.Thr562Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-147803627-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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