ClinVar Miner

Submissions for variant NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)

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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 RCV002594638 SCV002949511 pathogenic not provided 2022-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp73Argfs*11) in the SLC18A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC18A2 are known to be pathogenic (PMID: 26539891, 31618753). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC18A2-related conditions. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV004577023 SCV004175905 pathogenic Brain dopamine-serotonin vesicular transport disease 2023-12-11 no assertion criteria provided literature only

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