ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)

dbSNP: rs372215987
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002037810 SCV002229118 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-05-30 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: 1453016). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is present in population databases (rs372215987, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln444*) 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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