ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) (rs148514935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523774 SCV000619579 uncertain significance not specified 2017-08-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the HSPB8 gene. The E167K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E167K variant is observed in 35/10406 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E167K 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000640163 SCV000761751 likely benign Charcot-Marie-Tooth disease, type 2L 2017-11-23 criteria provided, single submitter clinical testing

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