ClinVar Miner

Submissions for variant NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528565 SCV004105638 likely pathogenic GDF5-related disorder 2023-08-21 criteria provided, single submitter clinical testing The GDF5 c.1420A>T variant is predicted to result in the amino acid substitution p.Ile474Phe. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been reported at PreventionGenetics in the de novo state in an individual with brachydactyly. Taken together, this variant is interpreted as likely pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796804 SCV005416675 uncertain significance Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate

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