ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.700+2T>C

dbSNP: rs1440688652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667777 SCV000792281 likely pathogenic Salla disease 2017-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667777 SCV001525426 likely pathogenic Salla disease 2024-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667777 SCV002310864 likely pathogenic Salla disease 2022-07-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SLC17A5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant is present in population databases (no rsID available, gnomAD 0.003%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 552504). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions.

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