ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003153187 SCV003842052 uncertain significance Combined oxidative phosphorylation deficiency 40 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.61; 3Cnet: 0.10). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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