ClinVar Miner

Submissions for variant NM_003104.6(SORD):c.328C>T (p.Arg110Ter)

gnomAD frequency: 0.00003  dbSNP: rs745509632
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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 RCV001682678 SCV001905616 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290739 SCV002578899 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 8 2022-04-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001682678 SCV002585493 pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing SORD: PVS1, PM2
Revvity Omics, Revvity RCV002290739 SCV003822071 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 8 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001682678 SCV005334337 pathogenic not provided 2024-01-26 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; Has not been previously published as pathogenic or benign to our knowledge

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