ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.979-2A>G

dbSNP: rs1554162230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672852 SCV000798000 likely pathogenic Salla disease 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672852 SCV001576658 likely pathogenic Salla disease 2020-12-01 criteria provided, single submitter clinical testing 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. Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 556798). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 7 of the SLC17A5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV000672852 SCV005056765 likely pathogenic Salla disease 2024-02-11 criteria provided, single submitter clinical testing

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