ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1958+6T>C

gnomAD frequency: 0.00001  dbSNP: rs770037712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438024 SCV000528805 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing The c.1958+6 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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.1958+6 T>C may damage or destroy the natural splice donor site in intron 14 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 variant or a rare benign variant.

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