ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.460del (p.Asp154fs)

dbSNP: rs1596220332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806724 SCV000946738 pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp162Thrfs*25) in the NTHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NTHL1 are known to be pathogenic (PMID: 25938944, 26559593). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 651377). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002332650 SCV002634101 pathogenic Hereditary cancer-predisposing syndrome 2021-03-25 criteria provided, single submitter clinical testing The c.484delG pathogenic mutation, located in coding exon 3 of the NTHL1 gene, results from a deletion of one nucleotide at nucleotide position 484, causing a translational frameshift with a predicted alternate stop codon (p.D162Tfs*25). 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.
Myriad Genetics, Inc. RCV003458211 SCV004188368 pathogenic Familial adenomatous polyposis 3 2023-09-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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