ClinVar Miner

Submissions for variant NM_001350650.1(MUTYH):c.33+147del (rs1553129638)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548215 SCV000639319 pathogenic MYH-associated polyposis 2017-04-26 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 5 of the MUTYH mRNA (c.421delC), causing a frameshift at codon 141. This creates a premature translational stop signal (p.Gln141Argfs*5) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic. This particular variant has been reported as compound heterozygous with other pathogenic variants in MUTYH in individuals with Muir–Torre syndrome (PMID: 16207212), attenuated polyposis (PMID: 22865608), and colorectal adenomas (PMID: 22773231). This variant is also known as 379delC. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000548215 SCV000837779 pathogenic MYH-associated polyposis 2018-07-02 criteria provided, single submitter clinical testing

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