ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) (rs751356206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724018 SCV000226180 pathogenic not provided 2018-07-03 criteria provided, single submitter clinical testing
Counsyl RCV000174810 SCV000793332 likely pathogenic Ellis-van Creveld syndrome 2017-08-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763526 SCV000894338 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763526 SCV001422157 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln755*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751356206, ExAC 0.002%). This variant has been observed in individual(s) with Ellis van-Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 194442). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.

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