ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met)

dbSNP: rs1303411209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502280 SCV000595291 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000754747 SCV000882638 pathogenic Nemaline myopathy 6 2018-10-08 criteria provided, single submitter clinical testing
GeneDx RCV001770382 SCV001992433 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000754747 SCV005813125 uncertain significance Nemaline myopathy 6 2024-05-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 82 of the KBTBD13 protein (p.Val82Met). 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 KBTBD13-related conditions. ClinVar contains an entry for this variant (Variation ID: 435545). 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 KBTBD13 protein function with a negative 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.

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