ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) (rs199546979)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000522614 SCV000226888 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000522614 SCV000618356 likely pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NRXN1 gene. The R1207X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the R1207X variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Dash Lab,University Health Network RCV000787967 SCV000914238 likely pathogenic Obesity 2018-07-01 no assertion criteria provided research

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