ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.2057C>T (p.Ala686Val)

gnomAD frequency: 0.00015  dbSNP: rs587778688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003453053 SCV004177093 uncertain significance Hamartoma of hypothalamus 2023-10-18 criteria provided, single submitter clinical testing The SMO c.2057C>T (p,Ala686Val) variant was identified at a near heterozygous allelic fraction of 50.5%, a frequency which may be consistent with germline origin. To our knowledge, this variant has not been reported in the medical literature but has been identified in three cancer cases in the cancer database COSMIC (COSMIC ID: COSV50825674). Computational predictors suggest that the variant does not impact SMO 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.
ITMI RCV000122438 SCV000086287 not provided not specified 2013-09-19 no assertion provided reference population

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