ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.893del (p.His298fs)

gnomAD frequency: 0.00001  dbSNP: rs777505711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667995 SCV000792533 likely pathogenic Ellis-van Creveld syndrome 2017-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485541 SCV002792098 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-03 criteria provided, single submitter clinical testing
Invitae RCV002485541 SCV004568253 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His298Profs*15) 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 present in population databases (rs777505711, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 552689). For these reasons, this variant has been classified as Pathogenic.

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