ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3378dup (p.Gln1127fs)

dbSNP: rs1302114356
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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 RCV001893313 SCV002165725 pathogenic not provided 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1127Serfs*29) 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 present in population databases (no rsID available, gnomAD 0.01%). 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: 1391877). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005050444 SCV005674482 likely pathogenic Medulloblastoma; Familial dysautonomia 2024-03-26 criteria provided, single submitter clinical testing

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