ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.341_350del (p.Ser114fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003544757 SCV004254047 pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser122Lysfs*12) 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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