ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)

gnomAD frequency: 0.00006  dbSNP: rs147075806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724493 SCV000226439 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218246 SCV000270264 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing p.Thr605Ile in exon 16 of HGF: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, 3 mammals (rabbit, David's myotis and big brown bat) have an isoleucine (Ile ) at this position despite high nearby amino acid conservation. In addition, it has also been identified in 6/66144 of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147075806).

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