ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)

dbSNP: rs1554735745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667529 SCV000791998 uncertain significance Familial dysautonomia 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV004760687 SCV005371429 uncertain significance not provided 2023-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation as the last 20 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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