ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) (rs755381180)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526470 SCV000626064 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-09-04 criteria provided, single submitter clinical testing This variant, c.904_906delAAG, results in the deletion of 1 amino acid(s) of the EVC protein (p.Lys302del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755381180, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from a likely pathogenic variant in an individual with clinical symptoms of Ellis-van Creveld syndrome (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has been observed in individuals affected with Ellis-van Creveld syndrome (PMID:  10700184, 17024374, 19810119, Invitae). ClinVar contains an entry for this variant (Variation ID: 446661). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV000657890 SCV000779653 likely pathogenic not provided 2018-05-30 criteria provided, single submitter clinical testing The c.904_906delAAG likely pathogenic variant in the EVC gene has been reported several times in the homozygous state in association with Ellis-van Creveld syndrome (Ruiz-Perez et al., 2000; Valencia et al., 2009; D'Asdia et al., 2013). The c.904_906delAAG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.904_906delAAG variant results in the in-frame loss of a single Lysine residue and in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We classify this variant as likely pathogenic.
Dan Cohn Lab,University Of California Los Angeles RCV000515867 SCV000612080 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research

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