ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4257+1G>A

dbSNP: rs876661288
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217023 SCV000279996 likely pathogenic not provided 2017-10-20 criteria provided, single submitter clinical testing A novel c.4257+1 G>A variant that is likely pathogenic has been identified in the SBF2 gene. The c.4257+1 G>A 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. The c.4257+1 G>A splice site variant destroys the canonical splice donor site in intron 31. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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