ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.576+8G>C (rs190500741)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083061 SCV000285959 likely benign MYH-associated polyposis 2020-08-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507537 SCV000601654 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580760 SCV000685647 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759164 SCV000888320 likely benign not provided 2017-07-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507537 SCV001572497 likely benign not specified 2021-04-04 criteria provided, single submitter clinical testing Variant summary: MUTYH c.576+8G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251486 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.576+8G>C has been reported in the literature asa heterozygous genotype in at-least one individual with 20 polyps and no extra intestinal manifestations (example, Cruz-Correa_2013). This report does not provide unequivocal conclusions about association of the variant with MUTYH-Associated Polyposis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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