ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.184G>A (p.Ala62Thr) (rs1064796602)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486033 SCV000573461 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing The A62T variant in the HSPB1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A62T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A62T 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 not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A62T as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509278 SCV000607205 not provided HSPB1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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