ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)

dbSNP: rs1477102573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666395 SCV000790680 likely pathogenic Ellis-van Creveld syndrome 2017-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390829 SCV001592690 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln45*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 551356). For these reasons, this variant has been classified as Pathogenic.

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