ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)

dbSNP: rs1859856446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682694 SCV001905655 likely pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882767 SCV002134449 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2261*) in the SPTAN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTAN1 are known to be pathogenic (PMID: 31332438, 33206935). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 33578420). ClinVar contains an entry for this variant (Variation ID: 1275817). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002539682 SCV003552364 uncertain significance Inborn genetic diseases 2021-01-29 criteria provided, single submitter clinical testing Loss-of-function of SPTAN1 has not been established as a mechanism of disease. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001682694 SCV005690038 pathogenic not provided 2024-08-07 criteria provided, single submitter clinical testing Nonsense 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: 33574475, 33578420)
OMIM RCV003333170 SCV004037436 pathogenic Neuronopathy, distal hereditary motor, autosomal dominant 11 2023-10-17 no assertion criteria provided literature only

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