ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)

gnomAD frequency: 0.00018  dbSNP: rs146389992
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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 RCV001297395 SCV001486407 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 344 of the NEUROD1 protein (p.Arg344Gln). This variant is present in population databases (rs146389992, gnomAD 0.04%). 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: 1001142). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002476382 SCV002780115 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-02-03 criteria provided, single submitter clinical testing

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