ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.133G>A (p.Gly45Arg)

dbSNP: rs2131152526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758814 SCV001997093 likely pathogenic not provided 2022-10-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located at the last nucleotide position of the exon, which is part of the splice donor site, and predicted to result in aberrant splicing; although in the absence of functional evidence, the actual effect of this sequence change is unknown

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