ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.943C>T (p.His315Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004566496 SCV005049530 uncertain significance Maffucci syndrome 2024-02-08 criteria provided, single submitter clinical testing An IDH1 c.943C>T (p.His315Tyr) variant was identified at an allelic fraction consistent with somatic origin. The variant, to our knowledge, has not been reported in the medical literature and is only observed on 4/1,461,792 alleles in the general population (gnomAD v.4.0.0), indicating it is not a common variant. Computational predictors suggest that the variant does not impact IDH1 function. Due to limited information, and based on the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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