ClinVar Miner

Submissions for variant NM_001737.5(C9):c.376G>A (p.Gly126Arg)

gnomAD frequency: 0.00017  dbSNP: rs199939436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371653 SCV001568225 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 126 of the C9 protein (p.Gly126Arg). This variant is present in population databases (rs199939436, gnomAD 0.04%). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 29767720). ClinVar contains an entry for this variant (Variation ID: 1061985). 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 C9 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on C9 function (PMID: 29767720). 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992511 SCV004810124 uncertain significance Complement component 9 deficiency 2024-04-04 criteria provided, single submitter clinical testing

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