ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073951 SCV003447178 benign not provided 2024-05-06 criteria provided, single submitter clinical testing
GeneDx RCV003073951 SCV005325729 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26986877)
Ambry Genetics RCV004960935 SCV005466305 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.788A>G (p.N263S) alteration is located in exon 2 (coding exon 2) of the NR2F1 gene. This alteration results from a A to G substitution at nucleotide position 788, causing the asparagine (N) at amino acid position 263 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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