ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.137C>T (p.Ser46Leu)

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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 RCV004650384 SCV005141131 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.137C>T (p.S46L) alteration is located in exon 1 (coding exon 1) of the NR2F1 gene. This alteration results from a C to T substitution at nucleotide position 137, causing the serine (S) at amino acid position 46 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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