ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)

gnomAD frequency: 0.00007  dbSNP: rs201412035
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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 RCV000163226 SCV000213750 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000205649 SCV000260346 likely benign Familial adenomatous polyposis 2 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000205649 SCV000357892 uncertain significance Familial adenomatous polyposis 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV000163226 SCV000685553 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001706072 SCV001474029 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
GeneDx RCV001706072 SCV001845061 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163226 SCV002532209 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000205649 SCV004836040 likely benign Familial adenomatous polyposis 2 2024-02-05 criteria provided, single submitter clinical testing

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