ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=)

gnomAD frequency: 0.00002  dbSNP: rs764741914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702904 SCV000831779 uncertain significance Pitt-Hopkins-like syndrome 2 2018-02-06 criteria provided, single submitter clinical testing This sequence change affects codon 822 of the NRXN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NRXN1 protein. This variant is present in population databases (rs764741914, ExAC 0.04%). This variant has not been reported in the literature in individuals with NRXN1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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