ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.361C>A (p.His121Asn)

gnomAD frequency: 0.00016  dbSNP: rs137854429
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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 RCV000013545 SCV000807648 pathogenic Mitochondrial DNA depletion syndrome, myopathic form 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found twice our laboratory: homozygous in a 4-year-old male with developmental regression, progressive muscle weakness, hypotonia, flat feet, Gower sign, arachnoid cyst; in trans with another pathogenic variant (R183W) in a 16-year-old female with proximal muscle weakness. Heterozygotes are expected to be asymptomatic carriers.
Invitae RCV001386287 SCV001586464 pathogenic not provided 2021-08-12 criteria provided, single submitter clinical testing
OMIM RCV000013545 SCV000033792 pathogenic Mitochondrial DNA depletion syndrome, myopathic form 2012-02-28 no assertion criteria provided literature only

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