ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.252_255del (p.Cys84fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309351 SCV002603162 likely pathogenic Familial dysautonomia 2021-12-05 criteria provided, single submitter clinical testing NM_003640.3(ELP1):c.252_255delTGTG(C84Wfs*24) is expected to be pathogenic in the context of familial dysautonomia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ELP1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099155 SCV003264945 pathogenic not provided 2022-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys84Trpfs*24) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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