ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)

gnomAD frequency: 0.00001  dbSNP: rs766645933
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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 RCV001965079 SCV002211044 uncertain significance not provided 2022-07-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1438002). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (rs766645933, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 27 of the NEUROD1 protein (p.Leu27Phe).
Fulgent Genetics, Fulgent Genetics RCV002479514 SCV002791615 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2021-12-28 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888927 SCV004705522 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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