ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1719+1G>A

dbSNP: rs2145460853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272582 SCV002556374 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2020-06-10 criteria provided, single submitter clinical testing The EFTUD2 c.1614+1G>A variant is a single nucleotide change from a guanine to an adenine at position 1614 which is located in a splice donor region. Splice site variants are a common mechanism of loss of function in the EFTUD2 gene (PMID: 26507355). The variant is located in intron 17 of 27 and abolition of this canonical splice site is predicted to produce a protein which would undergo nonsense mediated decay (PVS1). The variant is de novo (both maternity and paternity confirmed) in a patient with the disease and no family history (PS2). The EFTUD2 c.1614+1G>A variant has not been described in the literature to date. The variant has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in the ClinVar or HGMD disease databases. A variant affecting the splice acceptor site of this intron has been reported in the Leiden Open Variation Database as likely pathogenic in an individual with MFDGA (https://databases.lovd.nl/shared/variants/0000338076#00001809).

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