ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2442A>C (p.Lys814Asn)

dbSNP: rs1566237790
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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 RCV000692489 SCV000820315 uncertain significance Retinoblastoma 2022-06-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 571360). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 814 of the RB1 protein (p.Lys814Asn).
Ambry Genetics RCV002458234 SCV002737602 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-31 criteria provided, single submitter clinical testing The p.K814N variant (also known as c.2442A>C), located in coding exon 23 of the RB1 gene, results from an A to C substitution at nucleotide position 2442. The lysine at codon 814 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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