ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.5065C>T (p.Arg1689Trp)

gnomAD frequency: 0.00019  dbSNP: rs200731653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575089 SCV001802006 uncertain significance not provided 2020-05-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001575089 SCV005829796 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing

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