ClinVar Miner

Submissions for variant NC_012920.1:m.14597A>G

dbSNP: rs797045055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191107 SCV000245510 likely pathogenic Dystonic disorder; Dysarthria 2014-01-22 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo and 49% heteroplasmic in a 31-year-old male with profound and progressive generalized dystonia, dysarthria, prominent perivascular spaces. This same codon was affected in a family with Leber optic atrophy and hereditary spastic dystonia (PMID 8644732).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855132 SCV000998182 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14597A>G (YP_003024037.1:p.Ile26Thr) variant in MTND6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PP6, PP7
Mendelics RCV002247618 SCV002518296 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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