ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)

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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. RCV003458313 SCV004188395 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005100133 SCV005775718 pathogenic not provided 2024-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro29Thrfs*9) 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. For these reasons, this variant has been classified as Pathogenic.

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