ClinVar Miner

Submissions for variant NM_001278669.2(NFATC1):c.2032G>A (p.Val678Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003457228 SCV004183335 benign not specified 2023-12-12 criteria provided, single submitter research
Ambry Genetics RCV003457228 SCV004986086 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing The c.1993G>A (p.V665I) alteration is located in exon 8 (coding exon 8) of the NFATC1 gene. This alteration results from a G to A substitution at nucleotide position 1993, causing the valine (V) at amino acid position 665 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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