ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3665C>T (p.Pro1222Leu)

gnomAD frequency: 0.00012  dbSNP: rs755263731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807707 SCV000947776 uncertain significance Immunodeficiency 2025-01-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1128 of the NFAT5 protein (p.Pro1128Leu). This variant is present in population databases (rs755263731, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NFAT5-related conditions. ClinVar contains an entry for this variant (Variation ID: 652198). 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.
Ambry Genetics RCV004028624 SCV003686009 uncertain significance not specified 2021-08-30 criteria provided, single submitter clinical testing The c.3665C>T (p.P1222L) 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 3665, causing the proline (P) at amino acid position 1222 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003392614 SCV004118936 uncertain significance NFAT5-related disorder 2023-06-02 criteria provided, single submitter clinical testing The NFAT5 c.3383C>T variant is predicted to result in the amino acid substitution p.Pro1128Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-69727393-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV004693327 SCV005193473 uncertain significance not provided criteria provided, single submitter not provided

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