ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.364C>T (p.Pro122Ser) (rs1407007311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672061 SCV000797120 uncertain significance Ellis-van Creveld syndrome 2018-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000672061 SCV000915333 uncertain significance Ellis-van Creveld syndrome 2017-04-28 criteria provided, single submitter clinical testing The EVC c.364C>T (p.Pro122Ser) missense variant has been reported in a homozygous state in one patient with Ellis-van Creveld syndrome and in a heterozygous state in both unaffected parents (D'Asdia et al. 2013). The p.Pro122Ser variant was absent from 300 control chromosomes and is reported at a frequency of 0.00001 in the European (non-Finnish) population of the Genome Aggregation Database but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Pro122Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for Ellis-van Creveld syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998211 SCV001154155 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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