ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.50dup (p.Leu18fs)

dbSNP: rs1553855151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672151 SCV000797222 likely pathogenic Ellis-van Creveld syndrome 2018-01-17 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001290312 SCV001478359 likely pathogenic Curry-Hall syndrome 2019-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767995 SCV004607358 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556185). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu18Serfs*38) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).

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