Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000636911 | SCV000758355 | uncertain significance | Myopathy, centronuclear, 2 | 2023-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 428 of the BIN1 protein (p.Gly428Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with BIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 530867). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
Gene |
RCV003117445 | SCV003798700 | uncertain significance | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with arthrogryposis to our knowledge; This variant is associated with the following publications: (PMID: 27009864, 26740555, 28719003, 28539123) |
Revvity Omics, |
RCV000636911 | SCV003831462 | uncertain significance | Myopathy, centronuclear, 2 | 2020-09-29 | criteria provided, single submitter | clinical testing |