ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1447G>A (p.Val483Ile) (rs141330288)

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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 RCV000756082 SCV000883798 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing The ENG c.1447G>A; p.Val483Ile variant (rs141330288), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 414304). This variant is found in the general population with an overall allele frequency of 0.02% (48/274678 alleles) in the Genome Aggregation Database, with an increased frequency of 0.1% in East Asians. The valine at codon 483 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Val483Ile variant is uncertain at this time.
Invitae RCV000475081 SCV000557850 likely benign Osler hemorrhagic telangiectasia syndrome 2017-06-28 criteria provided, single submitter clinical testing

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