Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000641186 | SCV000762824 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2017-10-16 | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKAG2 cause disease. 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 PRKAG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the PRKAG2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000786196 | SCV000924906 | uncertain significance | not provided | 2017-12-21 | no assertion criteria provided | provider interpretation | We identified this variant in a patient with dilated cardiomyopathy. Testing was performed at Invitae. SCICD Classification: variant of uncertain significance based on absence in the general population, lack of case data and variant not known to be consistent with mechanism of disease. We do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). Case data (not including our patient): 0 · ClinVar: not present · Cases in the literature: none reported Segregation data: none reported Functional data: none reported Splice data (splice variants only): Per the test report, "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." Population data: absent The variant is not listed in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Latino, and Ashkenazi descent. Per Varsome.org, the average coverage at that site in exomes is 90x. |