ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.1424C>T (p.Thr475Met)

gnomAD frequency: 0.00042  dbSNP: rs141791856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331764 SCV001523875 uncertain significance Glucocorticoid deficiency 4 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546504 SCV003551815 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.1424C>T (p.T475M) alteration is located in exon 10 (coding exon 9) of the NNT gene. This alteration results from a C to T substitution at nucleotide position 1424, causing the threonine (T) at amino acid position 475 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094420 SCV005740419 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 475 of the NNT protein (p.Thr475Met). This variant is present in population databases (rs141791856, gnomAD 0.1%). 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: 1030250). 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 tolerated. 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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