ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)

dbSNP: rs774890086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667470 SCV000791923 likely pathogenic Familial dysautonomia 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001232986 SCV001405562 pathogenic not provided 2019-09-27 criteria provided, single submitter clinical testing Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552243). This variant is present in population databases (rs774890086, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ser385*) in the ELP1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005046869 SCV005674599 likely pathogenic Medulloblastoma; Familial dysautonomia 2024-05-06 criteria provided, single submitter clinical testing

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