ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.1005+6G>A

dbSNP: rs2148406240
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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 RCV002026914 SCV002314088 uncertain significance Severe combined immunodeficiency due to CTPS1 deficiency 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CTPS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the CTPS1 gene. It does not directly change the encoded amino acid sequence of the CTPS1 protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1516866). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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