ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.-6-95_42delinsC

dbSNP: rs1570465624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803300 SCV000943164 pathogenic Familial adenomatous polyposis 2 2018-10-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing part of exon 2 (c.37-95_84delinsC) of the MUTYH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with early-onset colon cancer (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.

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