ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.913C>T (p.Leu305Phe)

dbSNP: rs1292944238
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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 RCV001919653 SCV002194002 uncertain significance Retinoblastoma 2021-04-19 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 305 of the RB1 protein (p.Leu305Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Ambry Genetics RCV002370534 SCV002686046 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-04 criteria provided, single submitter clinical testing The p.L305F variant (also known as c.913C>T), located in coding exon 9 of the RB1 gene, results from a C to T substitution at nucleotide position 913. The leucine at codon 305 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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