ClinVar Miner

Submissions for variant m.3394T>C

dbSNP: rs41460449
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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 RCV000507319 SCV000604438 pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing The m.3394T>C variant is found at a frequency of 1.3% in MITOMAP (identified in 409 out of 32,059 sequences). When this variant has been reported in Leber hereditary optic neuropathy (LHON) patients, it is typically found alongside a primary variant; normally m.14484T>C (Brown 1995). The exact contribution of secondary variants such as m.3394T>C to the LHON phenotype is not fully understood, although data indicate that m.3394T>C likely influences the LHON phenotype in an ethnic-specific manner. While the frequency of m.3394T>C in Japanese LHON patients was not increased over controls (Matsumoto 1999), this mutation was found in 8.5% of Caucasian LHON patients compared to 1.1% of controls (Brown 1995). Furthermore, m.3394T>C was identified in four Chinese families effected with a low penetrance form of LHON (Liang 2009). m.3394T>C was identified in these families in the absence of any primary variant, suggesting that it plays a critical role in the LHON phenotype, either in isolation or by modifying other as-yet unidentified factors.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853650 SCV000996678 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3394T>C (YP_003024026.1:p.Tyr30His) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2
OMIM RCV000010375 SCV000030601 pathogenic Leber optic atrophy 1992-11-01 no assertion criteria provided literature only

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