ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.1192C>T (p.Arg398Cys)

gnomAD frequency: 0.00006  dbSNP: rs368724576
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333921 SCV001526630 uncertain significance Leigh syndrome 2018-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002486335 SCV002788651 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2021-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002546661 SCV003501950 uncertain significance not provided 2023-08-30 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 COX10 protein function. ClinVar contains an entry for this variant (Variation ID: 1031966). This variant has not been reported in the literature in individuals affected with COX10-related conditions. This variant is present in population databases (rs368724576, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 398 of the COX10 protein (p.Arg398Cys).
Ambry Genetics RCV004035770 SCV004851795 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.1192C>T (p.R398C) alteration is located in exon 7 (coding exon 7) of the COX10 gene. This alteration results from a C to T substitution at nucleotide position 1192, causing the arginine (R) at amino acid position 398 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002546661 SCV005192743 uncertain significance not provided criteria provided, single submitter not provided

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