ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.37-7G>A (rs780029247)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198929 SCV000253354 likely benign MYH-associated polyposis 2020-11-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579890 SCV000685617 likely benign Hereditary cancer-predisposing syndrome 2016-07-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855652 SCV000697692 likely benign not specified 2019-06-17 criteria provided, single submitter clinical testing Variant summary: MUTYH c.37-7G>A 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 0.00013 in 251438 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MUTYH causing MUTYH-associated Polyposis (0.00013 vs 0.0046), allowing no conclusion about variant significance. c.37-7G>A has been reported in the literature however these report(s) do not provide unequivocal conclusions about association of the variant with MUTYH-associated Polyposis (ex Yurgelun_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four 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.
Counsyl RCV000198929 SCV000800018 likely benign MYH-associated polyposis 2018-05-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000589838 SCV000806357 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Mendelics RCV000198929 SCV001135270 likely benign MYH-associated polyposis 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589838 SCV001147277 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing

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