ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.273dup (p.Lys92Ter)

dbSNP: rs2151739536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956412 SCV002243645 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys92*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive Ellis-van Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 1458519). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001956412 SCV002805106 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-07-28 criteria provided, single submitter clinical testing

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