ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.910dup (p.Arg304fs)

dbSNP: rs1428798262
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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 RCV001975003 SCV002241981 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-05-06 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 10700184). This variant is also known as 910-911insA. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg304Lysfs*5) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543).
Fulgent Genetics, Fulgent Genetics RCV001975003 SCV005658309 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-05-15 criteria provided, single submitter clinical testing

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