ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5307+6T>A

dbSNP: rs910280782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939902 SCV002185907 uncertain significance not provided 2021-03-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FAT4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the FAT4 gene. It does not directly change the encoded amino acid sequence of the FAT4 protein, but it affects a nucleotide within the consensus splice site of the intron.
Fulgent Genetics, Fulgent Genetics RCV005038492 SCV005662295 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-07 criteria provided, single submitter clinical testing

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