ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.350dup (p.Val119fs)

dbSNP: rs763525759
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817862 SCV000958445 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val127Glyfs*43) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 660624). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002363139 SCV002625259 pathogenic Hereditary cancer-predisposing syndrome 2024-12-05 criteria provided, single submitter clinical testing The c.374dupC pathogenic mutation, located in coding exon 2 of the NTHL1 gene, results from a duplication of C at nucleotide position 374, causing a translational frameshift with a predicted alternate stop codon (p.V127Gfs*43). 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.
GeneDx RCV000817862 SCV002762265 likely pathogenic not provided 2022-12-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV003458216 SCV004188352 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.
Baylor Genetics RCV003458216 SCV004192181 likely pathogenic Familial adenomatous polyposis 3 2024-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000817862 SCV004222201 likely pathogenic not provided 2023-02-23 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the NTHL1 mRNA and is predicted to cause the premature termination of NTHL1 protein synthesis. The variant has not been reported in individuals with NTHL1-related diseases in the published literature. Based on the available information, this variant is classified as likely pathogenic.

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