ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)

dbSNP: rs1555687655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660480 SCV000782579 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2017-02-10 criteria provided, single submitter clinical testing
GeneDx RCV005223091 SCV005870363 pathogenic not provided 2024-08-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Koleilat2022[Abstract], 32754641)

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