ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr)

dbSNP: rs1057516147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000408766 SCV000484852 uncertain significance Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524614 SCV003740060 uncertain significance Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing The c.233C>A (p.S78Y) alteration is located in exon 1 (coding exon 1) of the FOXL2 gene. This alteration results from a C to A substitution at nucleotide position 233, causing the serine (S) at amino acid position 78 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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