ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His)

dbSNP: rs199473692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236556 SCV000293260 pathogenic not provided 2024-04-15 criteria provided, single submitter clinical testing Published functional studies have shown the Y511H variant protein is mislocalized from the nucleus to the cytosol during the G2 phase, forming cytosolic aggegates that lead to early degradation and toxic cell stress (PMID: 25678562); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23365052, 29187684, 25942534, 25678562, 23521649, 32754641, 33433851)
OMIM RCV000149568 SCV000196544 pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome 2013-02-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000149568 SCV004174780 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2016-01-06 no assertion criteria provided literature only

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