ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003961562 SCV004774461 likely pathogenic NR2F1-related disorder 2024-01-08 no assertion criteria provided clinical testing The NR2F1 c.284G>A variant is predicted to result in the amino acid substitution p.Gly95Asp. 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 was detected de novo in an individual undergoing testing for optic atrophy (internal data). An alternate substitution of this amino acid (p.Gly95Val) has been reported in an individual with Bosch-Boonstra-Schaaf optic atrophy syndrome (Rech et al. 2020. PubMed ID: 32275123, Table S1). Given the evidence, we interpret c.284G>A (p.Gly95Asp) as likely pathogenic.

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