ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)

gnomAD frequency: 0.00001  dbSNP: rs1470523018
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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 RCV000632965 SCV000754174 benign Retinoblastoma 2024-01-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000632965 SCV001267167 uncertain significance Retinoblastoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002325217 SCV002606752 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-22 criteria provided, single submitter clinical testing The p.N380S variant (also known as c.1139A>G), located in coding exon 12 of the RB1 gene, results from an A to G substitution at nucleotide position 1139. The asparagine at codon 380 is replaced by serine, an amino acid with highly 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.
All of Us Research Program, National Institutes of Health RCV000632965 SCV004844648 uncertain significance Retinoblastoma 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 380 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 RB1-related disorders in the literature. This variant has been identified in 2/282042 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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