ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8812C>A (p.Gln2938Lys)

gnomAD frequency: 0.00019  dbSNP: rs370499753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002135161 SCV002447213 likely benign not provided 2024-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003061768 SCV003541194 uncertain significance Inborn genetic diseases 2020-10-21 criteria provided, single submitter clinical testing The c.8806C>A (p.Q2936K) 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 8806, causing the glutamine (Q) at amino acid position 2936 to be replaced by a lysine (K). Based on data from the Genome Aggregation Database (gnomAD) database, the FAT4 c.8806C>A alteration was observed in 0.01% (21/281458) of total alleles studied, with a frequency of 0.08% (20/24890) in the African subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Q2936K alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032176 SCV005659983 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-10 criteria provided, single submitter clinical testing

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