ClinVar Miner

Submissions for variant NM_006496.4(GNAI3):c.303+1G>A

dbSNP: rs1648676750
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270776 SCV001451535 uncertain significance Auriculocondylar syndrome 1 2020-05-28 criteria provided, single submitter clinical testing The GNAI3 c.303+1G>A variant occurs at a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Currently only missense variants have been associated with disease and loss-of-function has not been established as a mechanism of disease (Tavares et al. 2015). Based on the limited evidence, the c.303+1G>A variant is classified as a variant of uncertain significance for auriculocondylar syndrome.

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