ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.687C>T (p.Ala229=) (rs376919650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756083 SCV000883799 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing The ENG c.687C>T; p.Ala229Ala variant (rs376919650), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.02% (45/230158 alleles) in the Genome Aggregation Database, with an increased frequency of 0.1% in African Americans. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. Due to limited information, the clinical significance of the p.Ala229Ala variant is uncertain at this time.
Invitae RCV001085370 SCV001006120 benign Hereditary hemorrhagic telangiectasia 2020-08-23 criteria provided, single submitter clinical testing

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