ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)

gnomAD frequency: 0.00008  dbSNP: rs145758016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384115 SCV000343544 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480041 SCV002791894 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002480041 SCV003247060 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 177 of the EVC2 protein (p.Ser177Leu). This variant is present in population databases (rs145758016, gnomAD 0.02%). 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: 289224). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000384115 SCV005190010 uncertain significance not provided criteria provided, single submitter not provided
3billion, Medical Genetics RCV004720251 SCV005328619 likely benign Ellis-van Creveld syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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