ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3346+1G>A

dbSNP: rs760774999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669335 SCV000794079 likely pathogenic Familial dysautonomia 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV001056423 SCV001220866 likely pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 31 of the ELP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). This variant is present in population databases (rs760774999, gnomAD 0.0009%). 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: 553813). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV000669335 SCV001452826 likely pathogenic Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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