ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.849+10C>T

dbSNP: rs1060504205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078795 SCV000557585 likely benign Familial adenomatous polyposis 2 2023-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000485527 SCV000570919 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.933+10C>T or IVS10+10C>T and consists of a C>T nucleotide substitution at the +10 position of intron 10 of the MUTYH gene. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MUTYH c.933+10C>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is conserved through mammals. Based on currently available information, it is unclear whether MUTYH c.933+10C>T is pathogenic or benign. We consider it to be a variant of uncertain significance. Of note, MUTYH-Associated Polyposis (MAP) is a recessive condition associated with two pathogenic variants on opposite chromosomes in MUTYH.

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