ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)

dbSNP: rs767913372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414675 SCV000490944 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The c.1036_1037delCT variant in the EVC gene has been reported previously in the homozygous state in a fetus with postaxial polydactyly, short ribs, and partial atrioventricular canal (D'Asdia et al., 2013). This variant causes a frameshift starting with codon Leucine 346, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 37 of the new reading frame, denoted p.Leu346AspfsX37. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1036_1037delCT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1036_1037delCT as a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002488850 SCV002801368 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002488850 SCV004604688 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu346Aspfs*37) 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 (rs767913372, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 372594). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001828380 SCV002083024 pathogenic Ellis-van Creveld syndrome 2020-11-04 no assertion criteria provided clinical testing

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