ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)

gnomAD frequency: 0.00012  dbSNP: rs137852928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244422 SCV001417642 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 950 of the EVC2 protein (p.Arg950Trp). This variant is present in population databases (rs137852928, gnomAD 0.2%). This missense change has been observed in individual(s) with Ellis–van Creveld syndrome (PMID: 12468274, 23220543, 32369273). This variant is also known as Arg870Trp. ClinVar contains an entry for this variant (Variation ID: 3387). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV000003554 SCV002060244 uncertain significance Ellis-van Creveld syndrome 2021-10-01 criteria provided, single submitter clinical testing NM_147127.4(EVC2):c.2848C>T(R950W) is a missense variant classified as a variant of uncertain significance in the context of EVC2-related Ellis-van Creveld syndrome. R950W has been observed in cases with relevant disease (PMID: 12468274, 23220543, 32369273). Functional assessments of this variant are not available in the literature. R950W has been observed in population frequency databases (gnomAD: ASJ 0.17%). In summary, there is insufficient evidence to classify NM_147127.4(EVC2):c.2848C>T(R950W) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Fulgent Genetics, Fulgent Genetics RCV001244422 SCV002781080 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-01-06 criteria provided, single submitter clinical testing
OMIM RCV000003554 SCV000023712 pathogenic Ellis-van Creveld syndrome 2002-12-01 no assertion criteria provided literature only

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