ClinVar Miner

Submissions for variant NM_005412.6(SHMT2):c.1462C>T (p.Arg488Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002808711 SCV003591102 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.1462C>T (p.R488W) alteration is located in exon 12 (coding exon 12) of the SHMT2 gene. This alteration results from a C to T substitution at nucleotide position 1462, causing the arginine (R) at amino acid position 488 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989813 SCV004806071 uncertain significance Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 2024-03-25 criteria provided, single submitter clinical testing

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