ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8290A>C (p.Asn2764His)

gnomAD frequency: 0.00051  dbSNP: rs147281598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998294 SCV001154281 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV000998294 SCV001704482 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000998294 SCV001780790 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549084 SCV003682064 uncertain significance Inborn genetic diseases 2021-05-17 criteria provided, single submitter clinical testing The c.8284A>C (p.N2762H) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a A to C substitution at nucleotide position 8284, causing the asparagine (N) at amino acid position 2762 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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