ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.314_318delinsAGCCGCCGCCA (p.Leu104_Pro105insGlnPro)

dbSNP: rs1594383202
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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 RCV000806317 SCV000946307 uncertain significance Rett syndrome, congenital variant 2018-08-03 criteria provided, single submitter clinical testing While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.314_318delinsAGCCGCCGCCA, results in the insertion of 2 amino acids to the FOXG1 protein (p.Leu104_Pro105insGlnPro), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with FOXG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.

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