ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)

dbSNP: rs896634334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413041 SCV000490807 likely pathogenic not provided 2022-12-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In-frame duplication of 2 amino acids in a non-repeat region
Counsyl RCV000670826 SCV000795730 uncertain significance Renal carnitine transport defect 2017-11-22 criteria provided, single submitter clinical testing
Invitae RCV000670826 SCV001537731 uncertain significance Renal carnitine transport defect 2022-06-12 criteria provided, single submitter clinical testing This variant, c.1078_1083dup, results in the insertion of 2 amino acid(s) of the SLC22A5 protein (p.Gly360_Leu361dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 372506). 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 RCV000670826 SCV002055765 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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