ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4494_4496del (p.Lys1499del)

dbSNP: rs796052785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188303 SCV000241914 uncertain significance not specified 2012-07-17 criteria provided, single submitter clinical testing The p.Lys1539del has not been published as a mutation nor reported as a benign polymorphism, to our knowledge. Lys1539 is a well conserved position across species but does not lie within any known functional domain. Based on the currently available information, it is unclear whether p.Lys1539del is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Invitae RCV003619659 SCV004517270 uncertain significance Pitt-Hopkins-like syndrome 2 2023-06-23 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 206270). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. This variant is present in population databases (rs796052785, gnomAD 0.0009%). This variant, c.4614_4616del, results in the deletion of 1 amino acid(s) of the NRXN1 protein (p.Lys1539del), but otherwise preserves the integrity of the reading frame.

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