ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309994 SCV002604244 likely pathogenic Familial dysautonomia 2022-02-25 criteria provided, single submitter clinical testing NM_003640.3(ELP1):c.3688_3689delGA(E1230Kfs*5) 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.

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