ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro)

gnomAD frequency: 0.00009  dbSNP: rs201319352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540967 SCV000651319 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092944 SCV001249692 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing DNMT1: PP2, BP4
Illumina Laboratory Services, Illumina RCV000540967 SCV001283390 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV002341427 SCV002639094 uncertain significance Inborn genetic diseases 2022-03-28 criteria provided, single submitter clinical testing The p.T158P variant (also known as c.472A>C), located in coding exon 5 of the DNMT1 gene, results from an A to C substitution at nucleotide position 472. The threonine at codon 158 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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