ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.-1C>T

gnomAD frequency: 0.00001  dbSNP: rs532310992
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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 RCV000940328 SCV001086189 likely benign not provided 2024-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000940328 SCV002002670 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002454154 SCV002738781 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing The c.24C>T variant (also known as p.G8G), located in coding exon 1 of the NTHL1 gene, results from a C to T substitution at nucleotide position 24. This nucleotide substitution does not change the glycine at codon 8. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320223 SCV004024282 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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