ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) (rs1064796630)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487288 SCV000573527 likely pathogenic not provided 2018-10-10 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.688C>T at the cDNA level and p.Gln230Ter (Q230X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, we consider it to be likely pathogenic.
Invitae RCV000707275 SCV000836365 pathogenic MYH-associated polyposis 2020-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln230*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 423786). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001025763 SCV001188015 pathogenic Hereditary cancer-predisposing syndrome 2020-03-23 criteria provided, single submitter clinical testing The p.Q230* pathogenic mutation (also known as c.688C>T), located in coding exon 8 of the MUTYH gene, results from a C to T substitution at nucleotide position 688. This changes the amino acid from a glutamine to a stop codon within coding exon 8. 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.
Color Health, Inc RCV001025763 SCV001342426 pathogenic Hereditary cancer-predisposing syndrome 2020-12-01 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 8 of the MUTYH protein. creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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