ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1470+3A>T (rs370769794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695901 SCV000824426 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the EVC2 gene. It does not directly change the encoded amino acid sequence of the EVC2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs370769794, ExAC 0.02%). This variant has not been reported in the literature in individuals with EVC2-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Fulgent Genetics,Fulgent Genetics RCV000695901 SCV000897161 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-10-31 criteria provided, single submitter clinical testing

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