ClinVar Miner

Submissions for variant NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys)

gnomAD frequency: 0.00001  dbSNP: rs758978508
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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 RCV002007726 SCV002259759 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs758978508, gnomAD 0.006%). 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: 1474835). This variant has not been reported in the literature in individuals affected with NEUROG3-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 131 of the NEUROG3 protein (p.Tyr131Cys).
Fulgent Genetics, Fulgent Genetics RCV002484884 SCV002793835 uncertain significance Congenital malabsorptive diarrhea 4 2022-04-07 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV002484884 SCV002818568 uncertain significance Congenital malabsorptive diarrhea 4 2022-05-10 no assertion criteria provided clinical testing

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