ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.142_151del (p.Asp49fs)

dbSNP: rs1221185345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665329 SCV000789431 likely pathogenic Ellis-van Creveld syndrome 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000704017 SCV000832950 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant has not been reported in the literature in individuals with EVC2-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asp49Trpfs*9) in the EVC2 gene. It is expected to result in an absent or disrupted protein product.

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