ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) (rs568675071)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498308 SCV000590022 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing The D257H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D257H variant is observed in 11/980 (1.12%) alleles from individuals of East Asian background in large population cohorts, which is greater than expected for this disorder (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000346253 SCV000393289 likely benign Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639966 SCV000761552 benign Nemaline myopathy 6 2018-01-04 criteria provided, single submitter clinical testing

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