ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)

gnomAD frequency: 0.00002  dbSNP: rs121908424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045109 SCV001208943 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln879*) 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). This variant is present in population databases (rs121908424, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 10700184). ClinVar contains an entry for this variant (Variation ID: 5339). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001045109 SCV005662720 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-06-13 criteria provided, single submitter clinical testing
OMIM RCV000005667 SCV000025849 pathogenic Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only
Natera, Inc. RCV000005667 SCV002083058 pathogenic Ellis-van Creveld syndrome 2021-07-21 no assertion criteria provided clinical testing

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