ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) (rs1553400438)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599481 SCV000710192 likely pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NRXN1 gene. The c.4293_4308del16ins10 variant has not been published as a pathogenic variant, nor has it beenreported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.4293_4308del16ins10 variant causes a frameshift starting with codon Aspartic acid 1431, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Asp1431GlufsX4. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 117 amino acids are replaced with 3 incorrect ones. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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