ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr)

gnomAD frequency: 0.00055  dbSNP: rs202148971
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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 RCV002126918 SCV002408600 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV002126918 SCV002549226 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing 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 RCV004046280 SCV004868548 uncertain significance Inborn genetic diseases 2021-04-29 criteria provided, single submitter clinical testing The c.13549G>A (p.A4517T) alteration is located in exon 17 (coding exon 17) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 13549, causing the alanine (A) at amino acid position 4517 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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