ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.409G>A (p.Val137Ile)

gnomAD frequency: 0.00003  dbSNP: rs1379586467
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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 RCV001230916 SCV001403416 uncertain significance Immunodeficiency 2023-03-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 43 of the NFAT5 protein (p.Val43Ile). This variant is present in population databases (no rsID available, 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: 957855). 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 disruptive. 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 RCV004033109 SCV003646385 uncertain significance not specified 2022-10-06 criteria provided, single submitter clinical testing The c.409G>A (p.V137I) alteration is located in exon 4 (coding exon 4) of the NFAT5 gene. This alteration results from a G to A substitution at nucleotide position 409, causing the valine (V) at amino acid position 137 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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