ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1786A>T (p.Thr596Ser) (rs1060503176)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466435 SCV000552201 uncertain significance Pitt-Hopkins-like syndrome 2 2016-07-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 636 of the NRXN1 protein (p.Thr636Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NRXN1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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