ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)

gnomAD frequency: 0.00003  dbSNP: rs919177150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811739 SCV000952022 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu210*) 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 present in population databases (no rsID available, gnomAD 0.002%). 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: 655543). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002363103 SCV002660950 pathogenic Hereditary cancer-predisposing syndrome 2024-08-12 criteria provided, single submitter clinical testing The c.628G>T (p.E210*) alteration, located in exon 4 (coding exon 4) of the NTHL1 gene, consists of a G to T substitution at nucleotide position 628. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 210. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The NTHL1 c.628G>T alteration was flagged as a low confidence call in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Myriad Genetics, Inc. RCV003458215 SCV004188351 pathogenic Familial adenomatous polyposis 3 2023-09-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003458215 SCV004192184 likely pathogenic Familial adenomatous polyposis 3 2023-02-12 criteria provided, single submitter clinical testing

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