ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4718A>T (p.Asp1573Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004386105 SCV004869779 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.4718A>T (p.D1573V) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a A to T substitution at nucleotide position 4718, causing the aspartic acid (D) at amino acid position 1573 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038651 SCV005662280 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-01-05 criteria provided, single submitter clinical testing

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