ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)

dbSNP: rs772348768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225186 SCV002503726 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2 2020-12-17 criteria provided, single submitter clinical testing This sequence change is predicted to replace alanine with threonine at codon 3 of the YARS2 protein (p.(Ala3Thr)). The alanine residue is highly conserved (100 vertebrates, UCSC), and is located in the mitochondrion transit peptide. There is a small physicochemical difference between alanine and threonine. The variant is absent in a large population cohort (gnomAD v2.1 and v3.1), and has not been reported in relevant medical literature or databases. Multiple lines of computational evidence have conflicting predictions for the missense substitution (3/6 algorithms predict deleterious). Based on the classification scheme RMH Modified ACMG Guidelines v1.3.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting.

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