ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3073A>T (p.Thr1025Ser)

gnomAD frequency: 0.00006  dbSNP: rs751417445
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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 RCV001485632 SCV001690074 likely benign Immunodeficiency 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037253 SCV003546307 uncertain significance not specified 2021-12-20 criteria provided, single submitter clinical testing The c.3073A>T (p.T1025S) alteration is located in exon 13 (coding exon 13) of the NFAT5 gene. This alteration results from a A to T substitution at nucleotide position 3073, causing the threonine (T) at amino acid position 1025 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003883665 SCV004700595 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing

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