ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.997T>G (p.Cys333Gly)

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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 RCV004953936 SCV005466306 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.997T>G (p.C333G) alteration is located in exon 3 (coding exon 3) of the NR2F1 gene. This alteration results from a T to G substitution at nucleotide position 997, causing the cysteine (C) at amino acid position 333 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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