ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)

dbSNP: rs992326794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672336 SCV000797433 likely pathogenic Ellis-van Creveld syndrome 2018-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868263 SCV002236424 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser67Glyfs*17) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with EVC2-related conditions (PMID: 12571802). This variant is also known as c.198insGGCGG. ClinVar contains an entry for this variant (Variation ID: 556341). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000672336 SCV004804483 pathogenic Ellis-van Creveld syndrome 2024-01-11 criteria provided, single submitter clinical testing Variant summary: EVC2 c.194_198dupGGCGG (p.Ser67GlyfsX17) results in a premature termination codon and is predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 31290 control chromosomes (gnomAD). c.194_198dupGGCGG has been reported in the literature as a biallelic genotype in at least one individual affected with Ellis-van Creveld syndrome (e.g. Tompson_2007). These data indicate that the variant is very likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 556341). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000672336 SCV000023706 pathogenic Ellis-van Creveld syndrome 2003-03-01 no assertion criteria provided literature only

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