ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.982G>A (p.Ala328Thr)

gnomAD frequency: 0.00001  dbSNP: rs777911169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660403 SCV000782486 uncertain significance Cytochrome-c oxidase deficiency disease 2016-09-22 criteria provided, single submitter clinical testing
Kids Research, The Children's Hospital at Westmead RCV000660403 SCV001244719 likely pathogenic Cytochrome-c oxidase deficiency disease criteria provided, single submitter research
Invitae RCV002532013 SCV003468728 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 328 of the COX10 protein (p.Ala328Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with complex IV deficiency (PMID: 32313153). ClinVar contains an entry for this variant (Variation ID: 547867). 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 COX10 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.

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