ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)

gnomAD frequency: 0.00001  dbSNP: rs41271081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331766 SCV001523877 uncertain significance Glucocorticoid deficiency 4 2019-10-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546506 SCV002960196 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 627 of the NNT protein (p.Ser627Leu). This variant is present in population databases (rs41271081, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030252). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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