ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1274T>A (p.Ile425Asn)

dbSNP: rs1464633359
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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 RCV001890961 SCV002164500 uncertain significance Retinoblastoma 2021-10-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with RB1-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 425 of the RB1 protein (p.Ile425Asn).
Ambry Genetics RCV004656711 SCV005160559 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-16 criteria provided, single submitter clinical testing The p.I425N variant (also known as c.1274T>A), located in coding exon 13 of the RB1 gene, results from a T to A substitution at nucleotide position 1274. The isoleucine at codon 425 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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