ClinVar Miner

Submissions for variant NM_022172.2(PC):c.[2095G>A];[2095G>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000207120 SCV000257541 likely pathogenic Pyruvate carboxylase deficiency 2014-11-05 no assertion criteria provided clinical testing Previous child expired with mitochondrial disorder and showcased symptoms like increased serum lactate, alanine and tyrosine; had brown hair and suffered from severe acidosis; vomiting, convulsions from 3 months of age; cardiac arrest and died at 3 years. Both the mutations were likely to be pathogenic by online software including MutationTaster, SIFT and Polyphen.

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