ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)

gnomAD frequency: 0.00005  dbSNP: rs386833993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000049970 SCV000918211 likely pathogenic Salla disease 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The SLC17A5 c.719G>A (p.Trp240X) variant results in a premature termination codon, predicted to cause a truncated or absent SLC17A5 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 13/237362 control chromosomes at a frequency of 0.0000548, which does not exceed the estimated maximal expected allele frequency of a pathogenic SLC17A5 variant (0.0023717). The variant has been reported in at least one affected individual in the literature (Aula_2000). In addition, one clinical diagnostic laboratory/reputable database classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000049970 SCV000937248 pathogenic Salla disease 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56557). This premature translational stop signal has been observed in individual(s) with sialic acid-storage disease (PMID: 10947946). This variant is present in population databases (rs386833993, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp240*) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001).
Genome-Nilou Lab RCV000049970 SCV002027576 pathogenic Salla disease 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049970 SCV004201202 pathogenic Salla disease 2024-02-28 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049970 SCV000082379 probable-pathogenic Salla disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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