ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)

gnomAD frequency: 0.00010  dbSNP: rs142562681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236469 SCV000294179 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing The T772N variant has not been published in association with neuropathy to our knowledge. It was not observed with any significant frequency in the 1000 Genomes Project or in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The T772N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. However, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001854878 SCV002131351 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446465 SCV002733240 likely benign Inborn genetic diseases 2020-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002487104 SCV002790133 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-11-10 criteria provided, single submitter clinical testing

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