Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243642 | SCV001416812 | pathogenic | not provided | 2021-09-10 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 7 (c.802-8_810delinsGC) of the CYP4V2 gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (BCD) (PMID: 15042513, 16186368, 28051075, 30429639). It is commonly reported in individuals of East Asian ancestry (PMID: 15042513, 16186368, 28051075, 30429639). This variant is also known as IVS6-8delTCATACAGGTCATC and IVS6-Ex7del. ClinVar contains an entry for this variant (Variation ID: 968498). Studies have shown that this variant results in skipping of exon 7, but is expected to preserve the integrity of the reading-frame (PMID: 15042513). For these reasons, this variant has been classified as Pathogenic. |