ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)

dbSNP: rs730882253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000162064 SCV001426214 likely pathogenic Long QT syndrome 14 2020-07-22 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Long QT syndrome 14, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1) (PMID:24076290); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate) (PMID:27165696; 25036739).
OMIM RCV000162064 SCV000212097 pathogenic Long QT syndrome 14 2014-01-28 no assertion criteria provided literature only

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