ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.249G>A (p.Thr83=)

gnomAD frequency: 0.00002  dbSNP: rs145910377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652964 SCV001870999 uncertain significance not provided 2021-07-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001652964 SCV003476169 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing

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