ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.1211T>A (p.Val404Glu)

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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 RCV003549961 SCV004259961 benign not provided 2023-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003549961 SCV004700099 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FAT2: BP4, BS2
Ambry Genetics RCV004369005 SCV004869935 uncertain significance not specified 2022-01-04 criteria provided, single submitter clinical testing The c.1211T>A (p.V404E) alteration is located in exon 1 (coding exon 1) of the FAT2 gene. This alteration results from a T to A substitution at nucleotide position 1211, causing the valine (V) at amino acid position 404 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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