Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001812974 | SCV001472738 | uncertain significance | not provided | 2020-07-17 | criteria provided, single submitter | clinical testing | The CUBN c.5957A>T, p.Asp1986Val variant (rs772570411), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.2% (16/10,068 alleles) in the Genome Aggregation Database. The aspartic acid at codon 1986 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Asp1986Val variant is uncertain at this time. |
| Fulgent Genetics, |
RCV002480932 | SCV002777074 | uncertain significance | Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign | 2024-06-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002542976 | SCV003529856 | uncertain significance | Inborn genetic diseases | 2022-12-06 | criteria provided, single submitter | clinical testing | The c.5957A>T (p.D1986V) alteration is located in exon 40 (coding exon 40) of the CUBN gene. This alteration results from a A to T substitution at nucleotide position 5957, causing the aspartic acid (D) at amino acid position 1986 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |