ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)

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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 RCV003623199 SCV004449172 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-03-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 339 of the PHF6 protein (p.Asp339Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. 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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