ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7009G>T (p.Gly2337Trp)

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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 RCV005320304 SCV005990273 uncertain significance Inborn genetic diseases 2025-02-10 criteria provided, single submitter clinical testing The c.7009G>T (p.G2337W) alteration is located in exon 46 (coding exon 46) of the CUBN gene. This alteration results from a G to T substitution at nucleotide position 7009, causing the glycine (G) at amino acid position 2337 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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