ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2672G>T (p.Cys891Phe)

gnomAD frequency: 0.00002  dbSNP: rs769070098
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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 RCV002652250 SCV003529193 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.2672G>T (p.C891F) alteration is located in exon 20 (coding exon 20) of the CUBN gene. This alteration results from a G to T substitution at nucleotide position 2672, causing the cysteine (C) at amino acid position 891 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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