ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs)

dbSNP: rs2074119405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001255169 SCV001431518 pathogenic Diamond-Blackfan anemia 1 2020-08-17 criteria provided, single submitter clinical testing This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. RPS19 c.295_296delinsCAGCCGA is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Loss-of-function variants in RPS19 are known to be pathogenic. We consider this variant to be pathogenic.

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