ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002702241 SCV003549817 pathogenic Inborn genetic diseases 2020-07-14 criteria provided, single submitter clinical testing The alteration results in a premature stop codon: _x000D_ _x000D_ The c.94_157del64 (p.G32Rfs*66) alteration, located in coding exon 1 of the NR2F1 gene, results from a deletion of 64 nucleotides from position 94 to 157, causing a translational frameshift with a predicted alternate stop codon after 66 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

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