ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.232del (p.Val78fs)

dbSNP: rs1314290585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015982 SCV001176883 pathogenic Hereditary cancer-predisposing syndrome 2023-12-13 criteria provided, single submitter clinical testing The c.256delG pathogenic mutation, located in coding exon 2 of the NTHL1 gene, results from a deletion of one nucleotide at nucleotide position 256, causing a translational frameshift with a predicted alternate stop codon (p.V86Sfs*17). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002551789 SCV002929499 pathogenic not provided 2022-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 821502). 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). This sequence change creates a premature translational stop signal (p.Val86Serfs*17) 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).
Myriad Genetics, Inc. RCV003336244 SCV004043856 pathogenic Familial adenomatous polyposis 3 2023-04-26 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 RCV003336244 SCV004192120 likely pathogenic Familial adenomatous polyposis 3 2023-09-21 criteria provided, single submitter clinical testing

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