ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4886T>A (p.Phe1629Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004616073 SCV005104787 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.4886T>A (p.F1629Y) alteration is located in exon 33 (coding exon 33) of the CUBN gene. This alteration results from a T to A substitution at nucleotide position 4886, causing the phenylalanine (F) at amino acid position 1629 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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