ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.771G>A (p.Arg257=)

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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 RCV003458981 SCV004177028 uncertain significance Curry-Jones syndrome 2023-09-13 criteria provided, single submitter clinical testing The SMO c.771G>A (p.Arg257=) variant was identified at near heterozygous allelic fraction. To our knowledge, this variant has not been reported in the medical literature and is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on SMO function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as being of uncertain significance at this time.

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