ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala)

dbSNP: rs762326241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174043 SCV000225277 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
Invitae RCV000649742 SCV000771574 uncertain significance Pitt-Hopkins-like syndrome 2 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 710 of the NRXN1 protein (p.Pro710Ala). This variant is present in population databases (rs762326241, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 193837). 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. 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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