ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)

gnomAD frequency: 0.00011  dbSNP: rs371662809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752381 SCV001997210 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001752381 SCV003521224 likely benign not provided 2023-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542104 SCV004766300 likely benign NALCN-related disorder 2021-12-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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