ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs)

dbSNP: rs2084517687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003458312 SCV004188393 pathogenic Familial adenomatous polyposis 3 2023-08-31 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004636743 SCV005140450 pathogenic Hereditary cancer-predisposing syndrome 2024-05-06 criteria provided, single submitter clinical testing The c.104delAinsGG pathogenic mutation, located in coding exon 1 of the NTHL1 gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.E35Gfs*35). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.

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