ClinVar Miner

Submissions for variant NM_005412.6(SHMT2):c.1075C>T (p.Arg359Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003323105 SCV004028153 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820947 SCV005441968 uncertain significance Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 2024-12-19 criteria provided, single submitter clinical testing

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