ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.258-3T>G

dbSNP: rs899936625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597393 SCV000708833 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV002532649 SCV003330392 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-07-28 criteria provided, single submitter clinical testing This sequence change falls in intron 1 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. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 502190). This variant has not been reported in the literature in individuals affected with ISPD-related conditions. This variant is not present in population databases (gnomAD no frequency).

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