ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3490C>T (p.Pro1164Ser)

gnomAD frequency: 0.00006  dbSNP: rs779138756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134637 SCV002412623 likely benign Immunodeficiency 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046332 SCV004986246 uncertain significance not specified 2023-12-22 criteria provided, single submitter clinical testing The c.3490C>T (p.P1164S) alteration is located in exon 13 (coding exon 13) of the NFAT5 gene. This alteration results from a C to T substitution at nucleotide position 3490, causing the proline (P) at amino acid position 1164 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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