ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3030_3041dup (p.Thr1011_Thr1014dup) (rs1553698269)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658446 SCV000780218 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The c.3150_3161dup12 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.3150_3161dup12 variant results in an in-frame duplication of 4 amino acid residues, denoted p.Thr1051_Thr1054dup. However, it is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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