ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.150C>G (p.His50Gln)

dbSNP: rs1272746750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244393 SCV002512986 uncertain significance not provided 2021-10-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002244393 SCV003480653 benign not provided 2024-05-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239327 SCV005884562 uncertain significance not specified 2024-12-31 criteria provided, single submitter clinical testing Variant summary: NR2F1 c.150C>G (p.His50Gln) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.150C>G in individuals affected with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1683871). Based on the evidence outlined above, the variant was classified as uncertain significance.

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