Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000757373 | SCV001144217 | uncertain significance | not provided | 2019-02-18 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001224694 | SCV001396909 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2F | 2022-01-06 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 618680). This missense change has been observed in individual(s) with clinical features of HSPB1-related conditions (PMID: 25614874). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 83 of the HSPB1 protein (p.Ser83Asn). |