ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) (rs3219489)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079500 SCV000111382 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131427 SCV000186408 benign Hereditary cancer-predisposing syndrome 2014-10-28 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics RCV000079500 SCV000306733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299432 SCV000357896 benign MYH-associated polyposis 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Health, Inc RCV000131427 SCV000537346 benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283416 SCV000604305 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV000299432 SCV000639247 benign MYH-associated polyposis 2020-12-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079500 SCV000710869 benign not specified 2017-05-12 criteria provided, single submitter clinical testing p.Ser372Phe in exon 12 of MUTYH: This variant is not expected to have clinical s ignificance because it has been identified in 49% (15851/32596) of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs3219489).
GeneDx RCV000034684 SCV001940113 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23108399, 22703879, 22780951, 22926731, 18422726, 20149637, 22466227, 18823566, 19161591, 23499241, 23460202, 24728327, 18534194, 26377631, 25820570, 27153395, 29954149, 28628107, 27705013, 31027119, 30564557, 23618615, 31104418)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034684 SCV000043372 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079500 SCV000085793 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144634 SCV000189961 benign Carcinoma of colon 2014-07-24 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001270291 SCV000592707 benign Familial multiple polyposis syndrome no assertion criteria provided clinical testing The p.Gln338His variant was not identified in the literature. The p.Gln338 residue is not conserved in mammals and this variant is listed in dbSNP as a common polymorphism in different populations of origin with an average heterozygosity reported as 0.403+/-0.198 (dbSNP#: rs3219489), increasing the likelihood that the variant has no clinical significance. In summary, based on the above information, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000079500 SCV000691949 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079500 SCV001740567 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000079500 SCV001922460 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000079500 SCV001952901 benign not specified no assertion criteria provided clinical testing

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