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: 2
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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.

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