ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.2430G>A (p.Gly810=)

gnomAD frequency: 0.00016  dbSNP: rs1007155416
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532207 SCV000656476 likely benign Developmental and epileptic encephalopathy, 31A 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001548248 SCV001768123 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448790 SCV002735293 likely benign Inborn genetic diseases 2018-02-14 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.
Breakthrough Genomics, Breakthrough Genomics RCV001548248 SCV005227559 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935550 SCV004752891 likely benign DNM1-related disorder 2019-07-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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