ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2782+1G>T

gnomAD frequency: 0.00002  dbSNP: rs1007534611
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672556 SCV000797669 likely pathogenic Ellis-van Creveld syndrome 2018-02-06 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000672556 SCV000891767 pathogenic Ellis-van Creveld syndrome 2018-08-24 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV001213995 SCV001385658 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 of the EVC 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 EVC are known to be pathogenic (PMID: 23220543). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 556536). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000672556 SCV003807423 likely pathogenic Ellis-van Creveld syndrome 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Natera, Inc. RCV000672556 SCV002083065 likely pathogenic Ellis-van Creveld syndrome 2020-06-03 no assertion criteria provided clinical testing

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