ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)

gnomAD frequency: 0.00009  dbSNP: rs147634094
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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 RCV001342374 SCV001536302 uncertain significance not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 253 of the NEUROD1 protein (p.Leu253Pro). This variant is present in population databases (rs147634094, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1038985). 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 with a negative predictive value of 80%. 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.
GeneDx RCV001342374 SCV002588234 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002493754 SCV002787584 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-03-01 criteria provided, single submitter clinical testing

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