ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.342A>C (p.Gln114His)

gnomAD frequency: 0.00003  dbSNP: rs1303947958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773866 SCV001992074 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003289069 SCV003987714 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.342A>C (p.Q114H) alteration is located in exon 4 (coding exon 3) of the PHF6 gene. This alteration results from a A to C substitution at nucleotide position 342, causing the glutamine (Q) at amino acid position 114 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003771937 SCV004696710 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-06-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1305156). 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) performed at Invitae indicates that this missense variant is not expected to disrupt PHF6 protein function. 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 glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 114 of the PHF6 protein (p.Gln114His).

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