ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9181G>T (p.Asp3061Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004616088 SCV005104802 uncertain significance Inborn genetic diseases 2024-06-02 criteria provided, single submitter clinical testing The c.9181G>T (p.D3061Y) alteration is located in exon 58 (coding exon 58) of the CUBN gene. This alteration results from a G to T substitution at nucleotide position 9181, causing the aspartic acid (D) at amino acid position 3061 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038742 SCV005670691 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-03-28 criteria provided, single submitter clinical testing

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