ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003622543 SCV004404552 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-06-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 208 of the PHF6 protein (p.Thr208Ile). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PHF6 protein function. This variant has not been reported in the literature in individuals affected with PHF6-related conditions.

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