ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307258 SCV002604729 likely pathogenic Ellis-van Creveld syndrome 2021-12-10 criteria provided, single submitter clinical testing NM_147127.4(EVC2):c.2856_2857delAG(R952Sfs*51) is expected to be pathogenic in the context of EVC2-related Ellis-van Creveld syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in EVC2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099161 SCV003253201 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg952Serfs*51) 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).

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