ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)

gnomAD frequency: 0.00002  dbSNP: rs750526576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270836 SCV001451604 uncertain significance Leigh syndrome 2019-07-18 criteria provided, single submitter clinical testing The LRPPRC c.2056A>G (p.Ile686Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Ile686Val variant is classified as a variant of uncertain significance for Leigh syndrome.

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