ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)

gnomAD frequency: 0.00002  dbSNP: rs767850408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002018356 SCV002302697 likely benign Hereditary hemorrhagic telangiectasia 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418339 SCV004107374 uncertain significance ENG-related disorder 2022-11-23 criteria provided, single submitter clinical testing The ENG c.609G>C variant is predicted to result in the amino acid substitution p.Leu203Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-130588054-C-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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