ClinVar Miner

Submissions for variant NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) (rs142020748)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438206 SCV000511238 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000505740 SCV000239197 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing The M271V variant has not been published as a pathogenic variant in association with a primary mitochondrial disorder, nor has it been reported as a benign variant to our knowledge. The M271V variant is observed in 200/11,458 (1.7%) alleles from individuals of Latino background, including 3 apparently homozygous individuals in the ExAC dataset (Lek et al., 2016). The M271V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000313169 SCV000384511 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing

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