ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3389A>G (p.Lys1130Arg)

dbSNP: rs2152879482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002013372 SCV002296076 uncertain significance Pitt-Hopkins-like syndrome 2 2021-10-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1170 of the NRXN1 protein (p.Lys1170Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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