ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys)

gnomAD frequency: 0.00001  dbSNP: rs1060499577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477777 SCV002262454 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2022-09-27 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) performed at Invitae indicates that this missense variant is expected to disrupt GPHN protein function. ClinVar contains an entry for this variant (Variation ID: 417881). This variant has not been reported in the literature in individuals affected with GPHN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 611 of the GPHN protein (p.Glu611Lys).
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477777 SCV000536757 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2016-04-14 no assertion criteria provided research

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