ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.89A>C (p.Glu30Ala)

gnomAD frequency: 0.00001  dbSNP: rs1482284498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799491 SCV000939156 benign Retinoblastoma 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018600 SCV001179856 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The p.E30A variant (also known as c.89A>C), located in coding exon 1 of the RB1 gene, results from an A to C substitution at nucleotide position 89. The glutamic acid at codon 30 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Baylor Genetics RCV003467377 SCV004208499 uncertain significance Malignant tumor of urinary bladder 2023-09-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000799491 SCV004846305 uncertain significance Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with alanine at codon 30 of the RB1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/92968 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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