ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.127G>A (p.Val43Ile)

dbSNP: rs117256383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686556 SCV000814079 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 43 of the GPHN protein (p.Val43Ile). This variant is present in population databases (rs117256383, gnomAD 0.05%). This missense change has been observed in individual(s) with juvenile myoclonic epilepsy with generalized tonic-clonic seizures (PMID: 29948376). ClinVar contains an entry for this variant (Variation ID: 566679). 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 with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002507188 SCV002812248 uncertain significance Hyperekplexia 1; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2021-07-13 criteria provided, single submitter clinical testing
GeneDx RCV004721550 SCV005328141 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29948376)
3billion RCV000686556 SCV005328720 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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