ClinVar Miner

Submissions for variant NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter)

dbSNP: rs878855066
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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 RCV000234734 SCV000290573 uncertain significance Congenital heart defects, multiple types, 4 2016-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 237 (p.Gln237*) of the NR2F2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in NR2F2 are not necessarily pathogenic (PMID: 24702954), and the clinical significance of this variant is uncertain at this time. For these reasons, it has been classified as a Variant of Uncertain Significance.

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