Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502278 | SCV000594415 | uncertain significance | not specified | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001365960 | SCV001562246 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2020-07-19 | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 434971). This variant is present in population databases (rs375822798, ExAC 0.04%). This sequence change falls in intron 21 of the DYNC1H1 gene. It does not directly change the encoded amino acid sequence of the DYNC1H1 protein, but it affects a nucleotide within the consensus splice site of the intron. |
Ambry Genetics | RCV002341185 | SCV002636552 | likely benign | Inborn genetic diseases | 2021-05-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV003884575 | SCV004702139 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BS2 |