ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)

dbSNP: rs1577093161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764801 SCV004569602 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 102430). This premature translational stop signal has been observed in individual(s) with autosomal dominant Weyers acrodental dysostosis (PMID: 19810119). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1266*) in the EVC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the EVC2 protein.
OMIM RCV000088667 SCV000121589 pathogenic Curry-Hall syndrome 2009-12-01 no assertion criteria provided literature only

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