ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.826_827del (p.Gln276fs)

dbSNP: rs758841632
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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 RCV001059956 SCV001224611 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-02-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs758841632, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 854827). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This sequence change creates a premature translational stop signal (p.Gln276Alafs*64) 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).
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001822863 SCV002072467 pathogenic Ellis-van Creveld syndrome 2022-01-30 no assertion criteria provided clinical testing The homozygous frameshift deletion variant c.826_827delCA has an allele frequency-0.0004% n gnomAD (aggregated) database and 0.0008% in 1000g. In-silico bioinformatic software predict this variant by mutation taster as Disease causing. Phenotype observed was flat facies, short long bones, narrow thorax, postaxial polydactyly, spiked acetabula and bilateral club foot. Ellis-van Creveld is an autosomal recessive disorder. Based on the phenotypic observation, we classify this variant as pathogenic.

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