ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1087G>T (p.Asp363Tyr)

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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 RCV005328752 SCV005990268 uncertain significance Inborn genetic diseases 2025-02-07 criteria provided, single submitter clinical testing The c.1087G>T (p.D363Y) alteration is located in exon 10 (coding exon 10) of the CUBN gene. This alteration results from a G to T substitution at nucleotide position 1087, causing the aspartic acid (D) at amino acid position 363 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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