ClinVar Miner

Submissions for variant NM_003104.6(SORD):c.458C>A (p.Ala153Asp)

gnomAD frequency: 0.00033  dbSNP: rs145813597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311034 SCV001501057 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001311034 SCV002104386 pathogenic not provided 2023-07-05 criteria provided, single submitter clinical testing In vitro assays demonstrated that A153D constructs transfected into HeLa cells formed misslocalized insoluble aggregates in the cytosol as compared to wild type (Dong et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32367058, 33210134, 33369814, 34819907, 36431311, 35419909, 36943151, 33875678, 33397963)
3billion RCV003152760 SCV003842138 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 8 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.045%). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 33397963). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.66;). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV001012846 / PMID: 32367058). The variant has been reported to co-segregate with the disease in at least one similarly affected relative/individual in the same family or similarly affected unrelated family (PMID: 32367058). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Immunology and Genetics Kaiserslautern RCV003152760 SCV004803218 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 8 2024-03-06 criteria provided, single submitter clinical testing ACMG Criteria: PS3, PM2_P, PM3, PP3, PP4, PP5; Variant was found in heterozygous state

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