ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter)

dbSNP: rs776960135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695799 SCV000824320 pathogenic H syndrome 2017-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC29A3 are known to be pathogenic (PMID: 19336477, 20595384, 23406517, 25963354). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLC29A3-related disease. This variant is present in population databases (rs776960135, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Trp160*) in the SLC29A3 gene. It is expected to result in an absent or disrupted protein product.
CeGaT Center for Human Genetics Tuebingen RCV001726306 SCV001961228 likely pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing

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