ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.83A>T (p.Lys28Met) (rs1553131499)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588717 SCV000697694 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The MUTYH c.83A>T (p.Lys28Met) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome. This variant was absent in 121410 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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