ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8450G>T (p.Ser2817Ile)

gnomAD frequency: 0.00001  dbSNP: rs200532747
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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 RCV003276080 SCV003958647 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.8444G>T (p.S2815I) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a G to T substitution at nucleotide position 8444, causing the serine (S) at amino acid position 2815 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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