ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) (rs149378338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757709 SCV000886034 likely benign not provided 2017-07-18 criteria provided, single submitter clinical testing The p.Thr405Met variant (rs149378338) has not been previously associated with any mitochondrial disorder and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in Finnish populations of 0.71% (identified in 180 out of 25,360 chromosomes, including 1 homozygote). The threonine at codon 405is weakly conserved considering 11 species (Alamut software v2.9), and computational analyses suggest this variant does not have a significant effect on PUS1 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism).Therefore, the p.Thr405Met variant is likely to be benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000757709 SCV000892052 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV000757709 SCV001029368 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111978 SCV001269588 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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