ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.1294del (p.Leu432fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002801270 SCV003197364 pathogenic H syndrome 2022-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC29A3 protein in which other variant(s) (p.Gly437Arg) have been determined to be pathogenic (PMID: 18940313, 20595384, 20619369, 29041934). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu432Trpfs*21) in the SLC29A3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the SLC29A3 protein.

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