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
Invitae RCV001084927 SCV000557850 likely benign Hereditary hemorrhagic telangiectasia 2020-05-13 criteria provided, single submitter clinical testing
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.

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