ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2305-6C>T

gnomAD frequency: 0.00004  dbSNP: rs781705295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175108 SCV000226538 uncertain significance not provided 2015-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079265 SCV001089948 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003398888 SCV004122715 uncertain significance not specified 2023-10-10 criteria provided, single submitter clinical testing Variant summary: EVC c.2305-6C>T alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.8e-05 in 250726 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2305-6C>T in individuals affected with Ellis-van Creveld syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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