ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) (rs200549195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414516 SCV000490573 uncertain significance not specified 2016-03-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KBTBD13 gene. The R248C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R248C variant was not observed with any significant frequency in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R248C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant at the same position (R248S) has been reported in the Human Gene Mutation Database in association with nemaline myopathy type 6 (Stenson et al., 2014; Sambuughin et al., 2010). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000376161 SCV000393287 likely benign Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639957 SCV000761543 likely benign Nemaline myopathy 6 2017-12-28 criteria provided, single submitter clinical testing

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