Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001231746 | SCV001404278 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2F | 2022-07-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 958556). This variant has not been reported in the literature in individuals affected with HSPB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 50 of the HSPB1 protein (p.Ser50Ile). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Athena Diagnostics Inc | RCV002473234 | SCV002770665 | uncertain significance | not provided | 2021-12-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003373065 | SCV004087419 | uncertain significance | Inborn genetic diseases | 2023-07-13 | criteria provided, single submitter | clinical testing | The c.149G>T (p.S50I) alteration is located in exon 1 (coding exon 1) of the HSPB1 gene. This alteration results from a G to T substitution at nucleotide position 149, causing the serine (S) at amino acid position 50 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |