ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) (rs767384093)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591646 SCV000705355 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV000639945 SCV000761531 uncertain significance Nemaline myopathy 6 2018-02-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 97 of the KBTBD13 protein (p.Leu97Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KBTBD13-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000639945 SCV000882603 likely pathogenic Nemaline myopathy 6 2018-10-08 criteria provided, single submitter clinical testing

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