ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.802-6_810del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059989 SCV001224646 pathogenic not provided 2020-09-15 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 7 (c.802-8_810delinsGC) of the CYP4V2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individuals with Bietti crystalline corneoretinal dystrophy and segregates with disease in related individuals (PMID: 30429639, 15042513, 28051075, 16186368). It has been suggested to be a founder mutation in individuals of East Asian descent. This variant is also known as IVS6-8delTCATACAGGTCATC and IVS6-Ex7del in the literature. ClinVar contains an entry for this variant (Variation ID: 39271). Experimental studies have shown that this variant disrupts mRNA splicing, resulting in in-frame skipping of exon 7 (PMID: 15042513). For these reasons, this variant has been classified as Pathogenic.

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