ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.310del (p.Val104fs)

dbSNP: rs1553129676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573409 SCV000670183 pathogenic Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing The c.394delG variant, located in coding exon 5 of the MUTYH gene, results from a deletion of one nucleotide at nucleotide position 394, causing a translational frameshift with a predicted alternate stop codon (p.V132Sfs*14). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003614048 SCV004374960 pathogenic Familial adenomatous polyposis 2 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 483932). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val132Serfs*14) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686).
All of Us Research Program, National Institutes of Health RCV003614048 SCV004830749 likely pathogenic Familial adenomatous polyposis 2 2023-11-30 criteria provided, single submitter clinical testing

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