ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1429-8C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286942 SCV001473571 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2020-04-29 criteria provided, single submitter clinical testing The ENG c.1429-8C>G variant (rs376169815), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only four chromosomes (4/278642 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site; however, RNA studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.1429-8C>G variant is uncertain at this time.

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