ClinVar Miner

Submissions for variant NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)

gnomAD frequency: 0.00007  dbSNP: rs750210485
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269493 SCV002552751 likely pathogenic not provided 2022-07-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation as the last 17 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein
MGZ Medical Genetics Center RCV002290858 SCV002580885 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 8 2021-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403764 SCV004122865 uncertain significance not specified 2023-10-13 criteria provided, single submitter clinical testing Variant summary: SORD c.1021G>T (p.Gly341X) results in a premature termination codon of the last 17 codons in the last exon of the encoded protein. The variant allele was found at a frequency of 9.8e-06 in 204412 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1021G>T in individuals affected with Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely pathogenic, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002290858 SCV004809409 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 8 2024-04-04 criteria provided, single submitter clinical testing

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