ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)

dbSNP: rs1563651698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon RCV000678494 SCV000804561 likely pathogenic Neuronopathy, distal hereditary motor, type 2B 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001366718 SCV001563031 uncertain significance Charcot-Marie-Tooth disease axonal type 2F 2023-05-11 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 28144995). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 7 of the HSPB1 protein (p.Pro7Ser). ClinVar contains an entry for this variant (Variation ID: 560407). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Pro7 amino acid residue in HSPB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26989944, 29031079). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HSPB1 protein function.

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