ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.982_987del (p.Asn328_Lys329del) (rs878853952)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227594 SCV000284635 uncertain significance Retinoblastoma 2016-02-26 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 10 of the RB1 mRNA (c.982_987delAATAAA). This leads to the deletion of 2 amino acid residues in the RB1 protein (p.Asn328_Lys329del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an RB1-related disease. Experimental studies regarding the potential impact that deletion of these two amino acid residues has on protein function have not been reported. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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