ClinVar Miner

Submissions for variant NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter)

dbSNP: rs1557487793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706795 SCV000835865 pathogenic Familial adenomatous polyposis 2 2023-07-07 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: 582666). 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.Glu60*) 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).
Ambry Genetics RCV004026730 SCV005038210 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The p.E60* variant (also known as c.178G>T), located in coding exon 3 of the MUTYH gene, results from a G to T substitution at nucleotide position 178. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This region of the MUTYH gene is excluded from other biologically relevant MUTYH transcripts. Based on the available evidence, the clinical significance of this alteration remains unclear.

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