ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys)

dbSNP: rs2039109372
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NYU Undiagnosed Diseases Program, NYU School of Medicine RCV001289994 SCV001469007 likely pathogenic MEGF8-related Carpenter syndrome criteria provided, single submitter research This variant is located at the last base of exon 4 (NM_001410.3) and causes the involved 5’ splice donor site to not function, based on in vitro analysis of RNA. The loss of this 5’ splice donor site led to activation of a cryptic 5’ splice donor site inside exon 4 that splices into the normal 3’ splice acceptor site of exon 5. The abnormal cryptic 5’ splice donor site inside exon 4 leads to loss of the last 88 bp of exon 4 in the transcript, and a predicted subsequent frameshift and early truncation of the protein. The annotation of this abnormal transcript is: NM_001410.3:c.1261_1348del; NP_001258867.1:p.Val218_Gly246del / p.Gly247AlafsTer26.

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