ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.477del (p.Ala159_Val160insTer) (rs1555407608)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532534 SCV000638794 uncertain significance Nemaline myopathy 6 2017-05-18 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 1 of the KBTBD13 mRNA (c.477delC), causing a frameshift at codon 160. This creates a premature translational stop signal in the exon 1 (only exon) of the KBTBD13 mRNA (p.Val160*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 299 amino acids of the KBTBD13 protein. While this variant is not present in population databases, the frequency information is 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 a KBTBD13-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KBTBD13 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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