ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)

dbSNP: rs886041277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000376321 SCV000329614 pathogenic not provided 2017-10-27 criteria provided, single submitter clinical testing Although the c.395 G>A variant has not previously been reported to our knowledge, another nucleotide substitution, c.396 G>A, that also results in W132X has previously been reported in several unrelated individuals with primary carnitine deficiency (PCD) (Nezu et al., 1999;Tang et al., 1999; Ohkuma et al., 2009). The W132X nonsense variant in the SLC22A5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret W132X to be a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001274463 SCV003313084 pathogenic Renal carnitine transport defect 2022-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 279949). This premature translational stop signal has been observed in individual(s) with clinical features of primary carnitine deficiency (PMID: 28841266, 32870709). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp132*) in the SLC22A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797).
Natera, Inc. RCV001274463 SCV001458685 pathogenic Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing

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