ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)

gnomAD frequency: 0.00001  dbSNP: rs762897039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001785996 SCV002027724 uncertain significance not provided 2021-11-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003512136 SCV004319671 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-06-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1325935). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. This variant is present in population databases (rs762897039, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 83 of the PHF6 protein (p.Ser83Ala).

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