ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.310C>G (p.His104Asp)

dbSNP: rs2077363957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235025 SCV001407689 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-08-18 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt PHF6 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 961345). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 104 of the PHF6 protein (p.His104Asp).
CeGaT Center for Human Genetics Tuebingen RCV002264240 SCV002546198 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing PHF6: PM2, PP3

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