ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)

dbSNP: rs1559135426
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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 RCV001313610 SCV001504111 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NEUROD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces arginine with histidine at codon 95 of the NEUROD1 protein (p.Arg95His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002504480 SCV002816629 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2021-11-10 criteria provided, single submitter clinical testing

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