ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser)

dbSNP: rs201452963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915799 SCV002179251 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NR2F1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with serine at codon 65 of the NR2F1 protein (p.Gly65Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NR2F1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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