ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs)

dbSNP: rs879255251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780874 SCV002023393 likely pathogenic not provided 2020-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552019 SCV004113287 likely pathogenic CRB2-related disorder 2022-10-14 criteria provided, single submitter clinical testing The CRB2 c.3089_3104del16 variant is predicted to result in a frameshift and premature protein termination (p.Arg1030Leufs*106). This variant has been reported in the compound heterozygous state in a fetus with ventriculomegaly, hydrocephalus, and echogenic kidneys (Zhang et al. 2020. PubMed ID: 32051522). This variant is reported in 1 of 59,000 alleles in gnomAD: However, the quality of this call is questionable and should be interpreted with caution (http://gnomad.broadinstitute.org/variant/9-126135887-TGGCGCGGCCCCGGCCC-T). Frameshift variants in CRB2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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