ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127466 SCV003804056 likely benign Autism spectrum disorder 2022-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778680 SCV004612081 uncertain significance not provided 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 7 of the NALCN protein (p.Ser7Cys). This variant is present in population databases (rs755839325, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NALCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2430027). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NALCN protein function with a positive predictive value of 95%. 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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