ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2888del (p.His963fs) (rs796052787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188305 SCV000241916 pathogenic not provided 2013-05-26 criteria provided, single submitter clinical testing The c.3008delA mutation in the NRXN1 gene causes a frameshift starting with Histidine 1003, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 29 of the new reading frame, denoted p.His1003LeufsX29. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is considered a disease-causing mutation. The variant is found in INFANT-EPI panel(s).

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