ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.397A>C (p.Asn133His)

dbSNP: rs3092900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981682 SCV001129665 benign Retinoblastoma 2023-08-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000981682 SCV001271622 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 RCV002354884 SCV002620785 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-01 criteria provided, single submitter clinical testing The p.N133H variant (also known as c.397A>C), located in coding exon 4 of the RB1 gene, results from an A to C substitution at nucleotide position 397. The asparagine at codon 133 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly 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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