ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)

dbSNP: rs762942358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730695 SCV000858453 likely pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000730695 SCV002968836 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met432Ilefs*84) 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). This variant is present in population databases (rs762942358, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC6A19-related conditions. ClinVar contains an entry for this variant (Variation ID: 595203). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000730695 SCV003926386 uncertain significance not provided 2022-11-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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