ClinVar Miner

Submissions for variant NC_012920.1:m.8553C>T

dbSNP: rs1569484219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757478 SCV000885725 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing The m.8553C>T variant affects two mitochondrially-encoded genes; MT-ATP8 (c.188C>T; p.Ser63Leu) and MT-ATP6 (c.27C>T; p. Phe9Phe), and has not been associated with any disease. This variant affects a weakly conserved nucleotide, but is rare in the general population (identified in nine individuals in the MITOMAP database; 0.02% population frequency) and is not associated with any particular haplogroup. Therefore, due to limited information, the clinical significance of the m.8553C>T variant is uncertain at this time.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854233 SCV000997266 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8553C>T (YP_003024030.1:p.Ser63Leu) variant in MTATP8 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP6

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