ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)

gnomAD frequency: 0.00003  dbSNP: rs746187559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393680 SCV000449981 uncertain significance Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766009 SCV004610470 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1053 of the EVC2 protein (p.Asp1053Asn). This variant is present in population databases (rs746187559, gnomAD 0.005%). 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: 348988). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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