ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1186+9A>T (rs587780742)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129212 SCV000183962 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ,Insufficient or conflicting evidence
Color RCV000129212 SCV000910733 likely benign Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing
Counsyl RCV000123140 SCV000487386 likely benign MYH-associated polyposis 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000431410 SCV000513736 benign not specified 2015-03-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000123140 SCV000357893 uncertain significance MYH-associated polyposis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589767 SCV000697669 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The MUTYH c.1186+9A>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this substitution along with 4/5 splice prediction tools predicting the variant not to have a significant impact on splicing. This variant was found in 21/119636 control chromosomes at a frequency of 0.0001755, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644). The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. One patient previously tested in our laboratory carried the variant of interest and a pathogenic MUTYH variant (c.1187G>A/p.Gly396Asp) (phase unknown). Multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS/likely benign. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000123140 SCV000166442 likely benign MYH-associated polyposis 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589767 SCV000806338 likely benign not provided 2017-04-12 criteria provided, single submitter clinical testing

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