ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)

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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 RCV003064586 SCV003443304 pathogenic Diamond-Blackfan anemia 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu32*) in the RPS19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Diamond‚ÄëBlackfan anemia (PMID: 27329125). This variant is also known as p.32E>X. ClinVar contains an entry for this variant (Variation ID: 2138299). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003126268 SCV003803405 pathogenic not provided 2024-10-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27329125)

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