ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.933+3A>G

gnomAD frequency: 0.00001  dbSNP: rs377582530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419547 SCV000529676 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000419547 SCV000613778 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV000557346 SCV000652594 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-10-12 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the ISPD gene. It does not directly change the encoded amino acid sequence of the ISPD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs377582530, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ISPD-related conditions. ClinVar contains an entry for this variant (Variation ID: 387587). 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. 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.

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