Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001879959 | SCV002169296 | uncertain significance | Congenital myasthenic syndrome 15 | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the ALG14 gene. It does not directly change the encoded amino acid sequence of the ALG14 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of ALG14-related conditions (PMID: 30221345). ClinVar contains an entry for this variant (Variation ID: 978234). Studies have shown that this variant alters ALG14 gene expression (PMID: 30221345). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 30221345). 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 |
RCV002225815 | SCV002504404 | likely benign | not provided | 2018-08-13 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
OMIM | RCV001256635 | SCV001433008 | pathogenic | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 2020-10-05 | no assertion criteria provided | literature only |