ClinVar Miner

Submissions for variant m.5814T>C

dbSNP: rs200077222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506681 SCV000605442 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing This variant (rs200077222) affects the MT-TC gene which encodes the mitochondrial tRNA for cysteine, and has been described in the literature as both a pathogenic and benign variant. The m.5814T>C variant has historically been associated with MELAS-like syndromes, having been found in a heteroplasmic state in a Portuguese patient with episodic vomiting, lactic acidosis, seizures, hemiparesis and white matter abnormalities identified in a brain MRI (Manfredi 1996). It was also identified (heteroplasmic) in an Italian proband with hearing impairment, unsteady gait, hyporeflexia, nystagmus, and lactic acidosis (Santorelli 1997). However, the m.5814T>C variant was also identified in mildly effected and unaffected maternal relatives of the proband described in Santorelli (1997), and identified in a homoplasmic state in a different proband whose only clinical presentation was exercise intolerance and who also had several unaffected maternal relatives who carried the variant in a homoplasmic state (Sternberg 2001). Additionally, the m.5814T>C variant is found at 99% allele frequency in the L2b haplogroup which is primarily carried by individuals of African and Dominican descent (MITOMAP; trees described in Herrnstadt 2002 and Kivisild 2006), and is therefore present in presumably healthy individuals. Based on the available evidence, the m.5814T>C variant is unlikely to be a primary MELAS variant; however, a contributory role of this variant to MELAS expression cannot be excluded.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000022896 SCV000993094 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.5814T>C variant in MT-TC gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2
OMIM RCV000022896 SCV000044187 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1997-05-01 no assertion criteria provided literature only

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