ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)

dbSNP: rs778793911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669730 SCV000794509 likely pathogenic Ellis-van Creveld syndrome 2017-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531237 SCV003030478 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-01-19 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: 554154). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is present in population databases (rs778793911, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Pro1153Argfs*37) 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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