ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)

dbSNP: rs769748960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863599 SCV002108811 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is present in population databases (rs769748960, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Thr1128Profs*12) 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).
Fulgent Genetics, Fulgent Genetics RCV002503378 SCV002806917 likely pathogenic Medulloblastoma; Familial dysautonomia 2022-05-12 criteria provided, single submitter clinical testing

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