ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) (rs367662394)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000416180 SCV000292582 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The R27P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor with any significant frequency in the 1000 Genomes Project. The R27P 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416180 SCV000493283 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001086814 SCV000561799 likely benign Charcot-Marie-Tooth disease axonal type 2F 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000416180 SCV000885571 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing The p.Arg27Pro variant (rs367662394) variant was reported in one patient in a CMT cohort referred to for genetic testing (DiVincenzo 2014). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.06 percent in the South Asian population (identified on 17 out of 30,440 chromosomes). The arginine at position 27 is highly conserved up to fruitfly considering 12 species and computational analyses of the p.Arg27Pro variant on protein structure and function indicate a deleterious effect (SIFT: damaging, PolyPhen-2:possibly damaging). Altogether, there is not enough evidence to classify the p.Arg27Pro variant with certainty.
Athena Diagnostics Inc RCV000416180 SCV001144220 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174176 SCV001337302 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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