ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.-19+1G>T

dbSNP: rs1064796859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003507623 SCV004250925 pathogenic Diamond-Blackfan anemia 8 2025-01-26 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the RPS7 gene. It does not change the encoded amino acid sequence of the RPS7 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 25946618). It has also been observed to segregate with disease in related individuals. Studies have shown that this variant alters RPS7 gene expression (PMID: 36057918). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of cryptic splice sites and partial retention of the non-coding region in multiple RNA products, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 36057918). For these reasons, this variant has been classified as Pathogenic.

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