Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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, |
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 |