ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.2122C>T (p.Arg708Trp)

dbSNP: rs2544478340
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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 RCV003089299 SCV003466253 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2023-04-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPHN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2155053). 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 GPHN 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 708 of the GPHN protein (p.Arg708Trp).

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