ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002308904 SCV002601158 pathogenic not provided 2024-07-02 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29594000, 31333484)
Revvity Omics, Revvity RCV002308904 SCV003821762 pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002308904 SCV004226340 likely pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing PM2, PVS1

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