ClinVar Miner

Submissions for variant NM_001102416.3(KNG1):c.162T>G (p.Phe54Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280930 SCV002569186 uncertain significance Thrombus criteria provided, single submitter clinical testing
Ambry Genetics RCV004047553 SCV004895273 uncertain significance not specified 2022-12-27 criteria provided, single submitter clinical testing The c.162T>G (p.F54L) alteration is located in exon 1 (coding exon 1) of the KNG1 gene. This alteration results from a T to G substitution at nucleotide position 162, causing the phenylalanine (F) at amino acid position 54 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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