ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9839G>T (p.Arg3280Met)

dbSNP: rs1440110576
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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 RCV004386121 SCV004869813 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.9833G>T (p.R3278M) 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 9833, causing the arginine (R) at amino acid position 3278 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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