ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)

dbSNP: rs1446325480
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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 RCV001224188 SCV001396371 pathogenic not provided 2023-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1278Serfs*9) 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. ClinVar contains an entry for this variant (Variation ID: 952137). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002480739 SCV002777385 likely pathogenic Medulloblastoma; Familial dysautonomia 2022-01-12 criteria provided, single submitter clinical testing

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