ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383517 SCV002699639 pathogenic Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter clinical testing The p.Y454* pathogenic mutation (also known as c.1362C>G), located in coding exon 14 of the RB1 gene, results from a C to G substitution at nucleotide position 1362. This changes the amino acid from a tyrosine to a stop codon within coding exon 14. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003138241 SCV003807451 likely pathogenic Retinoblastoma 2022-04-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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