ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter) (rs370124822)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570847 SCV000674006 pathogenic Hereditary cancer-predisposing syndrome 2017-06-23 criteria provided, single submitter clinical testing The p.S83* pathogenic mutation (also known as c.248C>G), located in coding exon 3 of the MUTYH gene, results from a C to G substitution at nucleotide position 248. This changes the amino acid from a serine to a stop codon within coding exon 3. 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.
Counsyl RCV000576504 SCV000678200 likely pathogenic MYH-associated polyposis 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000657766 SCV000779519 likely pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.248C>G at the cDNA level and p.Ser83Ter (S83X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), 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, it is considered likely pathogenic.
Invitae RCV000576504 SCV000965432 pathogenic MYH-associated polyposis 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser83*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs370124822, ExAC 0.002%). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 485907). 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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