ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.590T>C (p.Ile197Thr)

gnomAD frequency: 0.00009  dbSNP: rs776287087
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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 RCV001865195 SCV002136402 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 197 of the COQ9 protein (p.Ile197Thr). This variant is present in population databases (rs776287087, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with COQ9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1368049). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002550411 SCV003609062 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.590T>C (p.I197T) alteration is located in exon 5 (coding exon 5) of the COQ9 gene. This alteration results from a T to C substitution at nucleotide position 590, causing the isoleucine (I) at amino acid position 197 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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