ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)

dbSNP: rs553756272
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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 RCV002045318 SCV002288627 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NEUROD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1503008). This missense change has been observed in individual(s) with maturity onset diabetes of the young (PMID: 25041077, 28095440). This variant is present in population databases (rs553756272, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 59 of the NEUROD1 protein (p.Glu59Gln). 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.
Fulgent Genetics, Fulgent Genetics RCV002492326 SCV002790827 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-02-23 criteria provided, single submitter clinical testing

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