ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)

dbSNP: rs760978695
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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 RCV001978793 SCV002226480 uncertain significance Borjeson-Forssman-Lehmann syndrome 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 41 of the PHF6 protein (p.Ala41Val). This variant is present in population databases (rs760978695, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1440192). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PHF6 protein function with a negative predictive value of 80%. 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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