ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003781028 SCV004569663 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive Ellis-van Creveld syndrome (PMID: 19251731). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu900*) 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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