ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del)

dbSNP: rs1561574113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686722 SCV000814251 uncertain significance Renal carnitine transport defect 2021-05-08 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the protein in which other variant(s) (p.Thr337Ile) have been observed in individuals with SLC22A5-related conditions (Invitae). This suggests that this may be a clinically significant region of the SLC22A5 protein. This variant has been observed in individual(s) with carnitine deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 566808). This variant is not present in population databases (ExAC no frequency). This variant, c.990_1016del, results in the deletion of 9 amino acid(s) of the SLC22A5 protein (p.Leu332_Ile340del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV000686722 SCV002815944 uncertain significance Renal carnitine transport defect 2021-07-05 criteria provided, single submitter clinical testing

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