ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) (rs886051333)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000314213 SCV000393277 uncertain significance Nemaline myopathy 6 2017-04-27 criteria provided, single submitter clinical testing The KBTBD13 c.238C>T (p.Gln80Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for an autosomal dominant form of nemaline myopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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