ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.1399+2dup

gnomAD frequency: 0.00001  dbSNP: rs755715459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054684 SCV001219032 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 804193). This variant has been observed in individuals with autosomal recessive or dominant cystinuria (PMID: 16374432, 32133030; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs755715459, gnomAD 0.01%). This sequence change falls in intron 12 of the SLC7A9 gene. It does not directly change the encoded amino acid sequence of the SLC7A9 protein. It affects a nucleotide within the consensus splice site.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV000991119 SCV001142196 pathogenic Cystine urolithiasis no assertion criteria provided research

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