ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)

dbSNP: rs796052040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186158 SCV000239184 pathogenic not provided 2014-08-15 criteria provided, single submitter clinical testing The c.1595_1604dupACAGAAAAAC, the normal sequence with the bases that are inserted in braces is: GAAAC{ACAGAAAAAC}TCCA. This mutation causes a frameshift starting with codon Proline 536, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Pro536GlnfsX21. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in SLC22A5 panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001294686 SCV001483573 uncertain significance Renal carnitine transport defect 2020-05-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SLC22A5 gene (p.Pro536Glnfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acids of the SLC22A5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 203937). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001294686 SCV002055782 likely pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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