ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.362T>C (p.Ile121Thr)

gnomAD frequency: 0.00002  dbSNP: rs547254482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000757131 SCV000251282 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27391121)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757131 SCV000885254 likely benign not provided 2017-05-17 criteria provided, single submitter clinical testing The p.Ile121Thr variant (rs547254482) has been previously identified as a homozygote in a patient with developmental delay, head nodding, and hypotonia (Al-Shamsi 2016). However, the patient described in Al-Shamsi (2016) also harbored - as a homozygote - a previously-established pathogenic variant in TRAPPC11, and normal coenzyme Q10 activity was detected in the patient’s muscle tissue. The p.Ile121Thr variant is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in South Asian populations of 0.81% (identified in248 out of 30,782 chromosomes including 2 homozygotes). Thus, based on the available information, this variant is likely to be benign.
Fulgent Genetics, Fulgent Genetics RCV000765299 SCV000896554 uncertain significance Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000757131 SCV001044994 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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