ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)

dbSNP: rs1190828671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318911 SCV001509632 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.225_227del, results in the deletion of 1 amino acid(s) of the NEUROD1 protein (p.Glu75del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002476491 SCV002793896 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-05-12 criteria provided, single submitter clinical testing

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