ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1052+5G>A

dbSNP: rs927950152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494312 SCV000582107 likely pathogenic not provided 2015-07-30 criteria provided, single submitter clinical testing The c.1052+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.1052+5 G>A damages the splice donor site of intron 6 which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Counsyl RCV000671868 SCV000796898 uncertain significance Renal carnitine transport defect 2018-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000671868 SCV002055763 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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