ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.543G>T (p.Gly181=)

gnomAD frequency: 0.00002  dbSNP: rs765016567
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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 RCV001480053 SCV001684364 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2024-10-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001358394 SCV005879392 likely benign not provided 2024-08-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358394 SCV001554112 uncertain significance not provided no assertion criteria provided clinical testing The FOXE3 p.Gly181Gly variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs765016567) and in control databases in 1 of 62082 chromosomes at a frequency of 0.00001611 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the European (non-Finnish) population in 1 of 23420 chromosomes (freq: 0.000043), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), Other, or South Asian populations. The p.Gly181Gly variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. However, three of four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing, although this has not been confirmed by RNA analysis and is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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