ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.1441G>A (p.Val481Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152935 SCV003841502 likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 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%). Functional studies provide moderate evidence of the variant having a damaging effect on the gene or gene product (PMID: 33977142). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.87; 3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with DARS2-related disorder (PMID: 33977142). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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