ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.150C>T (p.Cys50=)

dbSNP: rs1057518563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473400 SCV000552205 uncertain significance Pitt-Hopkins-like syndrome 2 2016-10-30 criteria provided, single submitter clinical testing In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a NRXN1-related disease. This sequence change affects codon 50 of the NRXN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NRXN1 protein.

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