ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.822C>G (p.Ser274=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005152359 SCV005781599 uncertain significance Nemaline myopathy 6 2024-02-28 criteria provided, single submitter clinical testing This sequence change affects codon 274 of the KBTBD13 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KBTBD13 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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