ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.52+4_52+5del

dbSNP: rs879254057
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236888 SCV000293321 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing The c.52+4_52+5delAG 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. In silico analysis predicts this variant may weaken or destroy the natural splice donor site in intron 1, leading to abnormal splicing. However, in the absence of RNA/functional studies the actual effect of this variant is unknown. This variant occurs at a position that is conserved across species. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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