ClinVar Miner

Submissions for variant NM_182925.5(FLT4):c.1093G>A (p.Glu365Lys)

gnomAD frequency: 0.00007  dbSNP: rs369919880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244277 SCV002512714 uncertain significance Hereditary lymphedema type I 2021-06-03 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting
Ambry Genetics RCV003093943 SCV003677589 uncertain significance Inborn genetic diseases 2022-07-14 criteria provided, single submitter clinical testing The c.1093G>A (p.E365K) alteration is located in exon 8 (coding exon 8) of the FLT4 gene. This alteration results from a G to A substitution at nucleotide position 1093, causing the glutamic acid (E) at amino acid position 365 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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