ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)

dbSNP: rs878853952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227594 SCV000284635 uncertain significance Retinoblastoma 2024-01-05 criteria provided, single submitter clinical testing This variant, c.982_987del, results in the deletion of 2 amino acid(s) of the RB1 protein (p.Asn328_Lys329del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 237679). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003343714 SCV004051196 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-15 criteria provided, single submitter clinical testing The c.982_987delAATAAA variant (also known as p.N328_K329del) is located in coding exon 10 of the RB1 gene. This variant results from an in-frame AATAAA deletion at nucleotide positions 982 to 987. This results in the in-frame deletion of 2 amino acids (NK) at codons 328 and 329. These amino acid positions are generally well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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