ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12249C>G (p.Asn4083Lys)

gnomAD frequency: 0.00001  dbSNP: rs756880595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002717881 SCV003559233 uncertain significance Inborn genetic diseases 2021-05-19 criteria provided, single submitter clinical testing The c.12243C>G (p.N4081K) alteration is located in exon 12 (coding exon 12) of the FAT4 gene. This alteration results from a C to G substitution at nucleotide position 12243, causing the asparagine (N) at amino acid position 4081 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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