ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.998-9C>T (rs3219488)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000448544 SCV000537433 likely benign Hereditary cancer-predisposing syndrome 2016-06-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000126894 SCV000592704 uncertain significance not specified 2014-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000126894 SCV000170425 benign not specified 2014-02-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590480 SCV000697718 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The MUTYH c.998-9C>T variant involves the alteration of a non-conserved intronic nucleotide and is predicted to have no significant impact on normal splicing by 5/5 splice prediction tools. However, these predictions have yet to be confirmed by functional studies. This variant was found in 43/86800 control chromosomes from ExAC at a frequency of 0.0004954, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644) for MAP disorder. This variant has been reported in affected individuals including polyposis patients and CRC patient, all without strong evidence for or against pathogenicity. Multiple clinical diagnostic laboratories/reputable databases and published reports classified this variant as likely benign/benign/rare variant/polymorphism without evidence to independently evaluate. Taken together, this variant is classified as VUS until more evidence becomes available.
Invitae RCV000119138 SCV000153853 likely benign MYH-associated polyposis 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000590480 SCV000806372 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000126894 SCV000601667 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590480 SCV000889537 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing

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