ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) (rs29001571)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489743 SCV000577216 pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing The R127W pathogenic variant in the HSPB1 gene has been reported multiple times previously in association with HSPB1-related disorders (Evgrafov et al., 2004; Tang et al., 2005; Benedetti et al., 2010). Funcational studies suggest the R127W variant impacts protein function (Almeida-Souza et al., 2010; Almeida-Souza et al., 2011; Holmgren et al., 2013). The R127W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R127W 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 where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.
Athena Diagnostics Inc RCV000489743 SCV000613674 pathogenic not provided 2016-12-23 criteria provided, single submitter clinical testing
OMIM RCV000007906 SCV000028111 pathogenic Distal hereditary motor neuronopathy type 2B 2005-08-01 no assertion criteria provided literature only
OMIM RCV000007907 SCV000028112 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2005-08-01 no assertion criteria provided literature only

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