ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.469del (p.Leu157fs)

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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 RCV003048558 SCV003353036 pathogenic not provided 2022-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu165Cysfs*22) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV003336800 SCV004043919 pathogenic Familial adenomatous polyposis 3 2023-06-12 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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