ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)

gnomAD frequency: 0.00001  dbSNP: rs767219230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936019 SCV002192923 uncertain significance not provided 2022-07-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 1417052). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (rs767219230, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 254 of the NEUROD1 protein (p.Glu254Ala).
Fulgent Genetics, Fulgent Genetics RCV002484517 SCV002775948 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002557747 SCV003667227 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.761A>C (p.E254A) alteration is located in exon 2 (coding exon 1) of the NEUROD1 gene. This alteration results from a A to C substitution at nucleotide position 761, causing the glutamic acid (E) at amino acid position 254 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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