ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) (rs780954241)

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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 RCV000728207 SCV000855751 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000728207 SCV000621847 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing The R251H 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 R251H variant is a conservative amino acid substitution, which is not likely to impact secondary proteinstructure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000364833 SCV000431214 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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