ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1664A>G (p.His555Arg)

dbSNP: rs1555286700
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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 RCV000552483 SCV000629290 uncertain significance Retinoblastoma 2017-04-18 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces histidine with arginine at codon 555 of the RB1 protein (p.His555Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.
Ambry Genetics RCV002395311 SCV002703321 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter clinical testing The p.H555R variant (also known as c.1664A>G), located in coding exon 17 of the RB1 gene, results from an A to G substitution at nucleotide position 1664. The histidine at codon 555 is replaced by arginine, 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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