ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1103A>G (p.His368Arg)

dbSNP: rs2104294116
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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 RCV001968539 SCV002240009 uncertain significance Pitt-Hopkins-like syndrome 2 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 401 of the NRXN1 protein (p.His401Arg). ClinVar contains an entry for this variant (Variation ID: 1462564). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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