ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1111+1G>A

gnomAD frequency: 0.00001  dbSNP: rs777862172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539590 SCV003439453 likely pathogenic Salla disease 2023-04-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. This variant is present in population databases (rs777862172, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 8 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). ClinVar contains an entry for this variant (Variation ID: 1252085). 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.
Baylor Genetics RCV002539590 SCV004201238 pathogenic Salla disease 2022-02-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001844399 SCV001870522 pathogenic Sialic acid storage disease, severe infantile type 2021-04-29 no assertion criteria provided research

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