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

dbSNP: rs896634334

Total submissions: 5

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586699	SCV005077539	uncertain significance	not specified	2024-04-04	criteria provided, single submitter	clinical testing	Variant summary: SLC22A5 c.1078_1083dupGGGCTT (p.Gly360_Leu361dup) results in an in-frame duplication that is predicted to duplicate two amino acids into the encoded protein. The variant allele was found at a frequency of 4e-06 in 251484 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1078_1083dupGGGCTT in individuals affected with Systemic Primary Carnitine Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 372506). Based on the evidence outlined above, the variant was classified as uncertain significance.