ClinVar Miner

Submissions for variant NM_001465.6(FYB1):c.1922T>C (p.Val641Ala)

gnomAD frequency: 0.00026  dbSNP: rs199923708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501347 SCV000594898 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791500 SCV005411786 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing BP4, PM1_supporting
Ambry Genetics RCV000501347 SCV005594729 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.1922T>C (p.V641A) alteration is located in exon 1 (coding exon 1) of the FYB gene. This alteration results from a T to C substitution at nucleotide position 1922, causing the valine (V) at amino acid position 641 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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