ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.648+14C>G (rs752537118)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411478 SCV000487336 uncertain significance MYH-associated polyposis 2016-02-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000584440 SCV000690601 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500658 SCV000592691 likely benign Carcinoma of colon no assertion criteria provided clinical testing The c.690+14C>G variant was not identified in the literature nor was it identified in the in dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, COSMIC, MutDB, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, “Zhejiang Colon Cancer Database”, ClinVar database, and UMD databases. However it was listed 2X in “InSiGHT Colon Cancer Database” with undetermined clinical significance. The c.690+14C>G variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529071 SCV001741904 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529071 SCV001807156 likely benign not provided no assertion criteria provided clinical testing

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