ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)

gnomAD frequency: 0.00007  dbSNP: rs150358307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315141 SCV001505698 uncertain significance Imerslund-Grasbeck syndrome 2023-01-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CUBN protein function. ClinVar contains an entry for this variant (Variation ID: 1016175). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs150358307, gnomAD 0.2%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3343 of the CUBN protein (p.Pro3343Leu).
Fulgent Genetics, Fulgent Genetics RCV002486235 SCV002778086 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166803 SCV003868698 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.10028C>T (p.P3343L) alteration is located in exon 62 (coding exon 62) of the CUBN gene. This alteration results from a C to T substitution at nucleotide position 10028, causing the proline (P) at amino acid position 3343 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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