ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.728del (p.Thr243fs)

gnomAD frequency: 0.00001  dbSNP: rs1561165786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000722915 SCV002967356 pathogenic not provided 2022-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 591734). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr243Serfs*2) in the SLC6A19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC6A19 are known to be pathogenic (PMID: 15286787, 15286788).
Gharavi Laboratory, Columbia University RCV000722915 SCV000854046 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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