ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2686-16C>A

gnomAD frequency: 0.00028  dbSNP: rs370562126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436502 SCV000532340 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ARFGEF2 gene. The c.2686-16 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2686-16 C>A variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Several in-silico splice prediction models predict that c.2686-16 C>A may damage or destroy the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, this substitution occurs at a position not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000436502 SCV002428434 likely benign not provided 2022-09-27 criteria provided, single submitter clinical testing

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