ClinVar Miner

Submissions for variant NM_014947.5(FOXJ3):c.582T>G (p.Ile194Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003457201 SCV003683686 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.582T>G (p.I194M) alteration is located in exon 8 (coding exon 5) of the FOXJ3 gene. This alteration results from a T to G substitution at nucleotide position 582, causing the isoleucine (I) at amino acid position 194 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003457201 SCV004183348 benign not specified 2023-12-12 criteria provided, single submitter research

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