ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2355G>A (p.Arg785=)

gnomAD frequency: 0.00003  dbSNP: rs587783103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144769 SCV000190985 uncertain significance not provided 2014-05-29 criteria provided, single submitter clinical testing The c.2355 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.2355 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.2355 G>A could potentially damage the natural splice acceptor site in intron 11 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI,CHILD-EPI panel(s).
Invitae RCV002515943 SCV002962174 uncertain significance Angelman syndrome 2022-08-21 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 156626). This variant has not been reported in the literature in individuals affected with UBE3A-related conditions. This variant is present in population databases (rs587783103, gnomAD 0.009%). This sequence change affects codon 765 of the UBE3A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the UBE3A protein. It affects a nucleotide within the consensus splice site.

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