ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu)

gnomAD frequency: 0.00010  dbSNP: rs568003396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820717 SCV002070356 uncertain significance not specified 2020-08-13 criteria provided, single submitter clinical testing The sequence change, c.9591T>A, in exon 9 results in an amino acid change, p.Asp3197Glu. This sequence change does not appear to have been previously described in patients with FAT4-related disorders and has been described in the gnomAD database with a low population frequency of 0.075% in the South Asian subpopulation (dbSNP rs568003396). The p.Asp3197Glu change affects a moderately conserved amino acid residue located in a domain of the FAT4 protein that is known to be functional. The p.Asp3197Glu substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp3197Glu change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002545160 SCV003508940 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542052 SCV003681645 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.9591T>A (p.D3197E) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a T to A substitution at nucleotide position 9591, causing the aspartic acid (D) at amino acid position 3197 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038343 SCV005657514 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-27 criteria provided, single submitter clinical testing

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