ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11080A>G (p.Thr3694Ala)

gnomAD frequency: 0.00001  dbSNP: rs150752497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562876 SCV001785714 uncertain significance not provided 2021-02-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004039328 SCV004868543 uncertain significance Inborn genetic diseases 2024-03-14 criteria provided, single submitter clinical testing The c.11074A>G (p.T3692A) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a A to G substitution at nucleotide position 11074, causing the threonine (T) at amino acid position 3692 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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