ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.1495C>T (p.Gln499Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577138 SCV005061000 uncertain significance Combined oxidative phosphorylation deficiency 40 criteria provided, single submitter clinical testing The observed stop gained c.1495C>T(p.Gln499Ter) variant in QRSL1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.1495C>T variant has been reported with allele frequency of 0.001% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The nucleotide change c.1495C>T in QRSL1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Loss of function variants have been previously reported to be disease causing. However, since this variant is present in the last exon, functional studies will be required to prove protein truncation. Hence the variant is classified as a Variant of Uncertain Significance (VUS).

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