ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.10743C>A (p.Asp3581Glu)

gnomAD frequency: 0.00001  dbSNP: rs768808202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003147198 SCV003833970 uncertain significance not provided 2019-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004621765 SCV005115809 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.10737C>A (p.D3579E) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a C to A substitution at nucleotide position 10737, causing the aspartic acid (D) at amino acid position 3579 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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