ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.356+3A>C

dbSNP: rs1555841379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503534 SCV002065956 likely pathogenic Diamond-Blackfan anemia 1 2021-12-21 no assertion criteria provided clinical testing DNA sequence analysis of the RPS19 gene in demonstrated a sequence change located near the canonical splice donor site in intron 4, c.356+3A>C. This sequence change does not appear to have been previously described in patients with RPS19-related disorders and has also not been described as a known benign sequence change in the RPS19 gene. Based on in silico splice prediction programs, this sequence change likely affects normal splicing of the RPS19 gene, which would result in an abnormal protein, however functional studies have not been performed to prove this conclusively.

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